PREPLADDER’S FMGE

LRR - BIOCHEMISTRY
Dr. C. SHANMUGAPRIYA
BIOCHEMISTRY FACULTY
WHAT TO EXPECT IN THE SESSION?
WHAT TO EXPECT IN THE SESSION?
● JULY 2023 Q PAPER
WHAT TO EXPECT IN THE SESSION?
● JULY 2023 Q PAPER ● BLOOD COLLECTION TUBES
● GLYCOGEN STORAGE DISORDERS ● INVESTIGATIONS (IMAGE BASED
● GLYCOSPHINGOLIPIDOSES QUESTIONS)

y
Oz
● PORPHYRIAS ● MOLECULAR BIOLOGY TECHNIQUES
● VITAMIN DEFICIENCY
○ DISORDERS
○ DIAGNOSIS
● MUCOPOLYSACCHARIDOSES
● REGULATION BASED QUESTIONS
 Is
Q Which of the following deficiency is associated with Poor wound healing,
Dermatitis, diarrhoea and alopecia?

tteropatty got malahunt

a. Niacin
b. Vitamin C

yc. Zinc
d. Magnesium

JULY 2023
Q Which of the following deficiency is associated with Poor wound healing,
Dermatitis, diarrhoea and alopecia?

Joy poleyn
Enid
a. Niacin no C
b. Vitamin C
c. Zinc
d. Magnesium

JULY 2023
POOR WOUND HEALING
POOR WOUND HEALING

● Zinc deficiency lmetallementy

● Vitamin C deficiency Ilyyehydaylare
pulylhyay
lolyenmatmatX
Q Which of the following deficiency is associated with Poor wound healing,
Dermatitis, diarrhoea and alopecia?

a. Niacin
b. Vitamin C
c. Zinc
d. Magnesium

JULY 2023
Q Which of the following deficiency is associated with Poor wound healing,
Dermatitis, diarrhoea and alopecia?

a. Niacin
b. Vitamin C
c. Zinc
d. Magnesium

JULY 2023
 par ward healy
I COLLAGEN MATURATION

I c prolyl bydye lyyehydaylare

audience
Dae lysage
Q –Menke’s disease is caused by?
a – Copper deficiency
b – Copper toxicity
Ty wi lien du one

Atta
c – Zinc deficiency
d – Flurine excess

JUNE 2021
Q –Menke’s disease is caused by?
a – Copper deficiency
b – Copper toxicity
c – Zinc deficiency
d – Flurine excess

JUNE 2021
COPPER METABOLISM

O
C
 D
MENKE’S DISEASE

Ath
I at ample
1 at
armsoII
tyrond
Qyngeandan
Tyraarelani
MENKE’S DISEASE

● ATP7A

● Absorption of copper

● Copper deficiency

● Lysyl Oxidase, ceruloplasmin, melanin

● Kinky hair, fractures, hypotonia

WILSON’S DISEASE
ATT FB
WILSON’S DISEASE

● ATP7B mutation
WILSON’S DISEASE

● ATP7B mutation
● Copper secretion into bile – copper toxicity – liver damage and lenticular
nucleus
ants apocentupulerplaney
T j.de at
Hauloptan
WILSON’S DISEASE

● ATP7B mutation
● Copper secretion into bile – copper toxicity – liver damage and lenticular
nucleus
● Copper incorporation into ceruloplasmin – low ceruloplasmin, low serum
copper and high urinary copper
WILSON’S DISEASE

● ATP7B mutation
● Copper secretion into bile – copper toxicity – liver damage and lenticular
nucleus
● Copper incorporation into ceruloplasmin – low ceruloplasmin, low serum
copper and high urinary copper

Ceruloplasmin less than 0.2g/L

s copper L
WILSON’S DISEASE

● ATP7B mutation
● Copper secretion into bile – copper toxicity – liver damage and lenticular
nucleus
● Copper incorporation into ceruloplasmin – low ceruloplasmin, low serum
copper and high urinary copper

L
Ceruloplasmin less than 0.2g/L
Urinary copper more than 100ug/24hours A
7250mg g
WILSON’S DISEASE

● ATP7B mutation
● Copper secretion into bile – copper toxicity – liver damage and lenticular
nucleus
● Copper incorporation into ceruloplasmin – low ceruloplasmin, low serum
copper and high urinary copper

Ceruloplasmin less than 0.2g/L

Urinary copper more than 100ug/24hours
Liver copper more than 250ug/g
 O
Q. Delayed wound healing after a minor surgery is due to the deficiency of?

Wild KF
and y gayomart
vie
a. Vitamin A Cee
b. Vitamin B
c.
O
Vitamin C
d. Vitamin D

JULY 2023
Q. Delayed wound healing after a minor surgery is due to the deficiency of?

Bleedif
a. Vitamin A
b. Vitamin B
c. Vitamin C
d. Vitamin D

JULY 2023
Q. A farmer sprayed a chemical in the pool which causes inhibition of complex III of electron

Iga
transport chain. Identify the inhibitor?

pan

a. Rotenone
b. BAL
c.
or
Cyanide
d. Antimycin
I
JULY 2023
Q. A farmer sprayed a chemical in the pool which causes inhibition of complex III of electron
transport chain. Identify the inhibitor?

I ate
a. Rotenone
b. BAL
c. Cyanide
d. Antimycin

JULY 2023
COMPLEXES OF ETC
COMPLEXES OF ETC

COMPLEX I
COMPLEXES OF ETC

COMPLEX I

NADH LINKED
DEHYDROGENASE
COMPLEXES OF ETC

COMPLEX II

COMPLEX I

NADH LINKED
DEHYDROGENASE
COMPLEXES OF ETC
COMPLEX II

SUCCINATE
DEHYDROGENASE

COMPLEX I

NADH LINKED
DEHYDROGENASE
COMPLEXES OF ETC

COMPLEX II

SUCCINATE
DEHYDROGENASE

COMPLEX I COMPLEX III

NADH LINKED
DEHYDROGENASE
b G
COMPLEXES OF ETC

COMPLEX II

SUCCINATE
DEHYDROGENASE

COMPLEX I
COMPLEX III
NADH LINKED
DEHYDROGENASE
CYT b & c1
COMPLEXES OF ETC
COMPLEX II

SUCCINATE
DEHYDROGENASE

COMPLEX I COMPLEX IV
COMPLEX III
NADH LINKED
DEHYDROGENASE CYT b & c1
9,93
COMPLEXES OF ETC

COMPLEX II

SUCCINATE
DEHYDROGENASE

COMPLEX I COMPLEX IV
COMPLEX III
NADH LINKED
DEHYDROGENASE CYT b & c1 CYT a & a3
COMPLEXES OF ETC

COMPLEX II

SUCCINATE
DEHYDROGENASE

COMPLEX I
Q COMPLEX III c COMPLEX IV
NADH LINKED
DEHYDROGENASE CYT b & c1 CYT a & a3
COMPLEXES OF ETC

COMPLEX II

SUCCINATE
DEHYDROGENASE

COMPLEX I C COMPLEX IV
Q COMPLEX III
NADH LINKED
DEHYDROGENASE CYT b & c1 CYT a & a3
COMPLEXES OF ETC

COMPLEX II

SUCCINATE
DEHYDROGENASE

COMPLEX I C COMPLEX IV
COMPLEX III
Q
NADH LINKED
DEHYDROGENASE CYT b & c1 CYT a & a3
COMPLEXES OF ETC

COMPLEX II

SUCCINATE
DEHYDROGENASE

COMPLEX I C COMPLEX IV
COMPLEX III
Q
NADH LINKED
DEHYDROGENASE CYT b & c1 CYT a & a3
COMPLEXES OF ETC

COMPLEX II

SUCCINATE
DEHYDROGENASE

COMPLEX I C COMPLEX IV
COMPLEX III
Q
NADH LINKED
DEHYDROGENASE CYT b & c1 CYT a & a3
COMPLEXES OF ETC
Malonate
COMPLEX II I
SUCCINATE
DEHYDROGENASE

COMPLEX I to
Q
COMPLEX III C COMPLEX IV
02
NADH LINKED
DEHYDROGENASE CYT b & c1 CYT a & a3

NAM G 1
me baritone

Pi
Rotenone
COMPLEXES OF ETC

COMPLEX II

SUCCINATE
DEHYDROGENASE

COMPLEX I C COMPLEX IV O2
COMPLEX III
Q
NADH LINKED
DEHYDROGENASE CYT b & c1 CYT a & a3
COMPLEXES OF ETC

COMPLEX II Has
SUCCINATE a
DEHYDROGENASE

COMPLEX I C COMPLEX IV O2
COMPLEX III
Q
NADH LINKED
DEHYDROGENASE CYT b & c1 CYT a & a3

Co
hynonia
MMM BAD
anemic Anting
 lynne
Stagnant

i i

02
X Hb
Caponi
anemic
lynonia
COMPLEXES OF ETC

COMPLEX II

SUCCINATE
DEHYDROGENASE

COMPLEX I C COMPLEX IV O2
COMPLEX III
Q
NADH LINKED
DEHYDROGENASE CYT b & c1 CYT a & a3
 00 O
Q3. A farmer sprayed a chemical in the pool which causes inhibition of complex III of electron
transport chain. Identify the inhibitor?
BAL
Antimywi

a. Rotenone
b. BAL
c. Cyanide
d. Antimycin

JULY 2023
Q3. A farmer sprayed a chemical in the pool which causes inhibition of complex III of electron
transport chain. Identify the inhibitor?

a. Rotenone
b. BAL
c. Cyanide
d. Antimycin

JULY 2023
 D
Q. A patient with a history of chronic alcoholism is admitted to the hospital with symptoms of
confusion, ataxia (loss of coordination), and ophthalmoplegia (paralysis of the eye
muscles). Which of the following vitamins is most likely to be deficient in this patient?

Wernicke's encephala
acute thiamindeficient
got
a. Vitamin B1 (Thiamine)
b. Vitamin B12 (Cobalamin)
c. Vitamin C (Ascorbic acid)
d. Vitamin D (Cholecalciferol)

JULY 2023
Q. A patient with a history of chronic alcoholism is admitted to the hospital with symptoms of
confusion, ataxia (loss of coordination), and ophthalmoplegia (paralysis of the eye
muscles). Which of the following vitamins is most likely to be deficient in this patient?

a. Vitamin B1 (Thiamine)
b. Vitamin B12 (Cobalamin)
c. Vitamin C (Ascorbic acid)
d. Vitamin D (Cholecalciferol)

JULY 2023
THIAMINE DEPENDENT ENZYMES

PD
THIAMINE DEPENDENT ENZYMES

● PDH
THIAMINE DEPENDENT ENZYMES

● PDH
● Alphaketoglutarate dehydrogenase
THIAMINE DEPENDENT ENZYMES

● PDH
● Alphaketoglutarate dehydrogenase
● BCKADH MSUD
I
wTHIAMINE DEPENDENT ENZYMES
ME
d
● PDH or
● Alphaketoglutarate Acetyewa
dehydrogenase
● BCKADH Cor
● Transketolase
THIAMINE DEFICIENCY
9 pipe Laetuaced
y
● PDH
Is Acetyle
● Alphaketoglutarate dehydrogenase
● BCKADH
● Transketolase
THIAMINE DEFICIENCY wet baiter C
ons hypotension
● PDH LACTIC ACIDOSIS
Dry
● Alphaketoglutarate dehydrogenase ARR
●
If
BCKADH
MSD
● Transketolase
postnatally
gnaw IPods
Acetyewa
IIe
Edema
THIAMINE DEFICIENCY

● PDH LACTIC ACIDOSIS

● Alphaketoglutarate dehydrogenase
● BCKADH MSUD RESPONDS TO THIAMINE SUPPLEMENTATION
● Transketolase
ID
RBC TK
THIAMINE DEFICIENCY

● PDH LACTIC ACIDOSIS

● Alphaketoglutarate dehydrogenase
● BCKADH MSUD RESPONDS TO THIAMINE SUPPLEMENTATION
● Transketolase
THIAMINE DEFICIENCY – RBC TRANSKETOLASE
ACTIVITY
ALCOHOLISM & THIAMINE DEFICIENCY
● R- CH2OH
● R- CH2OH
ALCOHOL
DEHYDROGENASE
● R- CH2OH RCHO
ALCOHOL
DEHYDROGENASE
● R- CH2OH RCHO
ALCOHOL ALDEHYDE
DEHYDROGENASE DEHYDROGENASE
●
O
R- CH2OH
ALCOHOL
DEHYDROGENASE
O
RCHO
ALDEHYDE
DEHYDROGENASE
RCOOH

NAD NAD
● R- CH2OH RCHO RCOOH
ALCOHOL ALDEHYDE
NAD DEHYDROGENASE DEHYDROGENASE

NADU
A

NADH NADH

ETC

ATP
● R- CH2OH RCHO RCOOH
ALCOHOL ALDEHYDE
DEHYDROGENASE DEHYDROGENASE

NADH NADH
● R- CH2OH RCHO RCOOH
ALCOHOL ALDEHYDE
DEHYDROGENASE DEHYDROGENASE

Empty
NADH NADH

I ATP ATP
ALCOHOLISM & THIAMINE DEFICIENCY - CAUSES
d meals
yh energy
I B an option

y pigtant
gpp
Thiamin
Inst
Ingot
ALCOHOLISM & THIAMINE DEFICIENCY - FORMS
Wernicke's encephalopathy GOA
Global confusion Ophthaler Ataxia
chrome Korsakoff syndrome
amnesia
Retrograde Anterograde
Confabulated
Sony again
ALCOHOLISM & THIAMINE DEFICIENCY - FORMS
Q. A patient with a history of chronic alcoholism is admitted to the hospital with symptoms of
confusion, ataxia (loss of coordination), and ophthalmoplegia (paralysis of the eye
muscles). Which of the following vitamins is most likely to be deficient in this patient?

9whalioy

a. Vitamin B1 (Thiamine) DeltnumTromene

00 r
b. Vitamin B12 (Cobalamin)
c. Vitamin C (Ascorbic acid)
d. Vitamin D (Cholecalciferol)

JULY 2023
Q. A patient with a history of chronic alcoholism is admitted to the hospital with symptoms of
confusion, ataxia (loss of coordination), and ophthalmoplegia (paralysis of the eye
muscles). Which of the following vitamins is most likely to be deficient in this patient?

a. Vitamin B1 (Thiamine)
b. Vitamin B12 (Cobalamin)
c. Vitamin C (Ascorbic acid)
d. Vitamin D (Cholecalciferol)

JULY 2023
 9
Q. A neonate dorn out of full term normal delivery is mother fed. The neonate
presents with hypoglycemia, hypophosphatemia, lactic acidosis, mild
icterus. Urine answers Benedict’s test. The most probable enzyme defect
is?

a. Lactase
b. Fructokinase
c. Galactokinase
d. Galactose 1 phosphate uridyl transferase

JULY 2023
LACTASE DEFICIENCY
hairs
0 0 I

1
to

Dino
LACTASE DEFICIENCY
Bloaty

forty stats
du
audio
É
 o
Q. A neonate dorn out of full term normal delivery is mother fed. The neonate
presents with hypoglycemia, hypophosphatemia, lactic acidosis, mild
icterus. Urine answers Benedict’s test. The most probable enzyme defect
is?

a. Lactase
sand
b. Fructokinase
c. Galactokinase agate
d. Galactose 1 phosphate uridyl transferase

JULY 2023
FRUCTOSE & GALACTOSE METABOLISM DISORDER
Q. A neonate dorn out of full term normal delivery is mother fed. The neonate
presents with hypoglycemia, hypophosphatemia, lactic acidosis, mild
icterus. Urine answers Benedict’s test. The most probable enzyme defect
is?

a. Lactase cataract
b. Fructokinase
c. Galactokinase Galactosemia
d. Galactose 1 phosphate uridyl transferase
daneatgated
Garp calories dgler d por
Lacto
JULY 2023
GALACTOKINASE DEFICIENCY
amateurish

I thaladotary
Sunflower
1phony
catailhal
wilier deed
Q. A neonate dorn out of full term normal delivery is mother fed. The neonate

anyn.at
1 presents with hypoglycemia, hypophosphatemia, lactic acidosis, mild
icterus. Urine answers Benedict’s test. The most probable enzyme defect
is?

a. Lactase
b. Fructokinase Lacto
c. Galactokinase no no
d. Galactose 1 phosphate uridyl transferase
I Pou

JULY 2023
Q. A neonate dorn out of full term normal delivery is mother fed. The neonate
presents with hypoglycemia, hypophosphatemia, lactic acidosis, mild
icterus. Urine answers Benedict’s test. The most probable enzyme defect
is?

a. Lactase
b. Fructokinase
c. Galactokinase
d. Galactose 1 phosphate uridyl transferase

JULY 2023
Q. Identify the pattern of inheritance depicted in the pedigree chart?

OT Dna
a. X linked recessive
b. Mitochondrial

T
c. Autosomal recessive
d. Autosomal dominant

JULY 2023
Q. Identify the pattern of inheritance depicted in the pedigree chart?

0
a. X linked recessive
b. Mitochondrial
c. Autosomal recessive
6
d. Autosomal dominant

1 O
JULY 2023
Q. Identify the pattern of inheritance depicted in the pedigree chart?

a. X linked recessive
aa re
b. Mitochondrial
c. Autosomal recessive
d. Autosomal dominant
tend no

JULY 2023
Q. Identify the pattern of inheritance depicted in the pedigree chart?

a. X linked recessive
b. Mitochondrial
c. Autosomal recessive
d. Autosomal dominant

JULY 2023
STEPS TO BE FOLLOWED TO ANSWER PEDIGREE
ANALYSIS MCQs
STEPS TO BE FOLLOWED TO ANSWER PEDIGREE
ANALYSIS MCQs
● Check the inheritance of affected females and compare it with that of affected
males – if only affected females transmit the illness to the next generation, it
is mitochondrial inheritance
STEPS TO BE FOLLOWED TO ANSWER PEDIGREE
ANALYSIS MCQs
● Check the inheritance of affected females and compare it with that of affected
males – if only affected females transmit the illness to the next generation, it
is mitochondrial inheritance
● If all sons of affected females are affected, it is X linked recessive
STEPS TO BE FOLLOWED TO ANSWER PEDIGREE
ANALYSIS MCQs
● Check the inheritance of affected females and compare it with that of affected
males – if only affected females transmit the illness to the next generation, it
is mitochondrial inheritance
● If all sons of affected females are affected, it is X linked recessive
● Whenever both the parents are affected, if all children are affected, it is
autosomal recessive
Q. Identify the pattern of inheritance depicted in the pedigree chart?

a. X linked recessive
b. Mitochondrial
c. Autosomal recessive
d. Autosomal dominant

JULY 2023
Q. Identify the pattern of inheritance depicted in the pedigree chart?

a. X linked recessive
b. Mitochondrial
c. Autosomal recessive
d. Autosomal dominant

JULY 2023
Q. The drug of choice for mountain sickness is?

a. Acetazolamide
b. Frusemide
c. Thiazides
d. Bicarbonate

JULY 2023
Q. The drug of choice for mountain sickness is?
is

a. Acetazolamide CAinhhi
b. Frusemide
c. Thiazides
d. Bicarbonate

JULY 2023
MOUNTAIN SICKNESS

Ropingxd
MOUNTAIN SICKNESS
ACETAZOLAMIDE Meracid

To
Q. The drug of choice for mountain sickness is?

a. Acetazolamide
b. Frusemide
c. Thiazides
d. Bicarbonate

JULY 2023
Q. The drug of choice for mountain sickness is?

a. Acetazolamide
b. Frusemide
c. Thiazides
d. Bicarbonate

JULY 2023
 Qs
Q. Which of the following intermediates of TCA cycle is formed from
Aspartate?

a. Fumarate
b. Alphaketoglutarate
c. Oxaloacetate
d. Succinyl CoA

JULY 2023
Q. Which of the following intermediates of TCA cycle is formed from
Aspartate?

a. Fumarate
b. Alphaketoglutarate
c. Oxaloacetate
d. Succinyl CoA

JULY 2023
TRANSAMINASES

AST SGOT ALT SUPT

ID
I PI
A OAnG Ila
Q. Which of the following intermediates of TCA cycle is formed from
Aspartate?

a. Fumarate
b. Alphaketoglutarate
c. Oxaloacetate
d. Succinyl CoA

JULY 2023
GLUCOGENIC AA TO TCA CYCLE INTERMEDIATES

O
● Cats Succeed funny oxes
GLUCOGENIC AA TO TCA CYCLE INTERMEDIATES

● Cats Succeed funny oxes

● Alphaketoglutarate
GLUCOGENIC AA TO TCA CYCLE INTERMEDIATES

● Cats Succeed funny oxes

● Alphaketoglutarate
● Succinyl CoA
GLUCOGENIC AA TO TCA CYCLE INTERMEDIATES

● Cats Succeed funny oxes

● Alphaketoglutarate
● Succinyl CoA
● Fumarate
GLUCOGENIC AA TO TCA CYCLE INTERMEDIATES

● Cats Succeed funny oxes

the
● Alphaketoglutarate
● Succinyl CoA
● Fumarate
● Oxaloacetate

998
GLUCOGENIC AA TO TCA CYCLE INTERMEDIATES

● Cats Succeed funny oxes

● Alphaketoglutarate
● Succinyl CoA val
● Fumarate ile
● Oxaloacetate Met
GLUCOGENIC AA TO TCA CYCLE INTERMEDIATES

● Cats Succeed funny oxes

● Alphaketoglutarate
● Succinyl CoA
● Fumarate Phe Tyr
● Oxaloacetate
GLUCOGENIC AA TO TCA CYCLE INTERMEDIATES

● Cats Succeed funny oxes

● Alphaketoglutarate
● Succinyl CoA
● Fumarate
● Oxaloacetate
Arp
Asn
Q. Which of the following intermediates of TCA cycle is formed from
Aspartate?

a. Fumarate
b. Alphaketoglutarate
c. Oxaloacetate
d. Succinyl CoA

JULY 2023
Q. Which of the following intermediates of TCA cycle is formed from
Aspartate?

a. Fumarate
b. Alphaketoglutarate
c. Oxaloacetate
d. Succinyl CoA

JULY 2023
Q. Cholera toxin causes diorrhea by acting through which of the following
recpetors?

ketogenic acolyte
a. GM3 ganglioside receptor Len
b. GM2 ganglioside receptor Lys
c. GM1 ganglioside receptor
d. Gi Receptor

JULY 2023
Q. Cholera toxin causes diorrhea by acting through which of the following
recpetors?

a. GM3 ganglioside receptor

b. GM2 ganglioside receptor
c. GM1 ganglioside receptor
d. Gi Receptor

JULY 2023
Q. Cholera toxin causes diorrhea by acting through which of the following
recpetors?

É
a. GM3 ganglioside receptor
b. GM2 ganglioside receptor
c. GM1 ganglioside receptor
80
d. Gi Receptor

ATP
2 year
JULY 2023
wie
Q –Which of the following shifts the given curve to left?
a – Hypoxia
b – Acidosis
c – Anemia
d – Decrease in body temperature

md

DEC 2021
Q –Which of the following shifts the given curve to left?
a – Hypoxia
b – Acidosis
c – Anemia
d – Decrease in body temperature

DEC 2021
 path 1 qnba
mg

Fpso Irt
i
Ito
Effalideayguate
I
hypoxia
Tynonia I anemia
TBT yyPTBT
Acidow É Acidoni
 pynongyglycoyo
ayyy ARBBPU

Avalon
d Bodytaper
FfÉg
Q –Which of the following shifts the given curve to left?
a – Hypoxia
b – Acidosis
c – Anemia
d – Decrease in body temperature

I Affeity centoadya
2,3Bpa

DEC 2021
Q –Which of the following shifts the given curve to left?
a – Hypoxia
b – Acidosis
c – Anemia
d – Decrease in body temperature

DEC 2021
Q. A person gives blood sample for fasting plasma glucose estimation at 7
AM. His last meal was a dinner at 8 PM the previous night. The major source
of plasma glucose is?

a. Gluconeogenesis
b. Liver Glycogenolysis
D r
c. Dietary Glucose
d. Ketone bodies

FMGE JAN 2022

Q. A person gives blood sample for fasting plasma glucose estimation at 7
AM. His last meal was a dinner at 8 PM the previous night. The major source
of plasma glucose is?

a. Gluconeogenesis
b. Liver Glycogenolysis
c. Dietary Glucose
d. Ketone bodies

FMGE JAN 2022

SOURCES OF PLASMA GLUCOSE

Dieteygluccato
Wi 992122
2k
J
ENG 7112618mg
Q. A person gives blood sample for fasting plasma glucose estimation at 7
AM. His last meal was a dinner at 8 PM the previous night. The major source
of plasma glucose is?

a. Gluconeogenesis
b. Liver Glycogenolysis
c. Dietary Glucose
d. Ketone bodies

FMGE JAN 2022

Q. A person gives blood sample for fasting plasma glucose estimation at 7
AM. His last meal was a dinner at 8 PM the previous night. The major source
of plasma glucose is?

a. Gluconeogenesis
b. Liver Glycogenolysis
c. Dietary Glucose
d. Ketone bodies

FMGE JAN 2022

FedEHatty
Neuen RBCs
glee
duet 99L 22
f
Dang t

2m ISuneha
en9EiI l9yghasAla.y
 DJ Ign I Adiposetissue

an

aid
sad
Ala g
Q –Which of the following activities are low in riboflavin deficiency?
a – Transketolase
Ribbon
glue
b – Glycogen phosphorylase
c – Propionyl CoA carboxylase

so
d – Glutathione reductase

FMGE JUN 2021

Q –Which of the following activities are low in riboflavin deficiency?
a – Transketolase
b – Glycogen phosphorylase
c – Propionyl CoA carboxylase
d – Glutathione reductase

FMGE JUN 2021

VITAMIN DEFICIENCY DIAGNOSIS

VITAMIN DEFICIENCY DIAGNOSIS POINT TO REMEMBER

Bi RBC TK
GR
X
11
BB's
Ioannuenicacid MY load
Enolate 71420
t
His load
B12 MMA faity
VITAMIN DEFICIENCY DIAGNOSIS

VITAMIN DEFICIENCY DIAGNOSIS POINT TO REMEMBER

B1 RBC Transketolase

B2 RBC Glutathione reductase

B6 Xanthurenic acid in urine After Try Load

Folate FIGLU in urine After His Load

B12 Methyl Malonic acid After Overnight fast

Q –Which of the following activities are low in riboflavin deficiency?
a – Transketolase
b – Glycogen phosphorylase
c – Propionyl CoA carboxylase
d – Glutathione reductase

FMGE JUN 2021

Q –Which of the following activities are low in riboflavin deficiency?
a – Transketolase
b – Glycogen phosphorylase
c – Propionyl CoA carboxylase
d – Glutathione reductase

FMGE JUN 2021

Q7 –The micronutrient that is deficient following post ileal resection is?
a – B12 Is
b – Folate
c – Iron
d – copper

FMGE JUN 2021

Q7 –The micronutrient that is deficient following post ileal resection is?
a – B12
b – Folate
c – Iron
d – copper

FMGE JUN 2021

 I
Q8 –A Vegetarian patient presents with anemia & hypersegmented
neutrophil. The most probable cause is?
a – Megaloblastic anemia
b – iron deficiency anemia
c – Anemia of chronic disease

BQ
d – Sideroblastic anemia

FMGE JUN 2021

Q8 –A Vegetarian patient presents with anemia & hypersegmented
neutrophil. The most probable cause is?
a – Megaloblastic anemia
b – iron deficiency anemia
c – Anemia of chronic disease
d – Sideroblastic anemia

FMGE JUN 2021

Vitamin B12

Adenosyl Biz InetylBTy

d
cot mutate
IMenyemaleye
Sucyt cot
f
Ifmenyendywty
Dayelination
myelin
Vitamin B12
11metyetUFf
M8ttIesgnonImer.m'ogeanen

homocysteine
dpd
Mfi
memocinesynhae
Treys

qtr
melytfolate
macrocyte

IM MM MM A
Nevolycial
Q9 –A person presents with diarrhea, dementia and dermatitis. What is the
probable cause?
a – Pellagra 3Ds q pellyn
b – Cystinuria
c – Alkaptonuria
d – Porphyria

FMGE JUN 2021

Q9 –A person presents with diarrhea, dementia and dermatitis. What is the
probable cause?
a – Pellagra
b – Cystinuria
c – Alkaptonuria
d – Porphyria

FMGE JUN 2021

 Q. Given picture depicts the deficiency of?

a. Niacin
b. Retinol
c. Riboflavin v
d. Tyrosine

FMGE JUNE 2022

 Q. Given picture depicts the deficiency of?

a. Niacin
b. Retinol Bilots
c. Riboflavin
d. Tyrosine

FMGE JUNE 2022

 Q. Given picture depicts the deficiency of?

a. Niacin
b. Retinol

O
c. Riboflavin
d. Tyrosine

o
FMGE JUNE 2022
 Q. Given picture depicts the deficiency of?

a. Niacin
b. Retinol

D
c. Riboflavin
O
d. Tyrosine
O
FMGE JUNE 2022
 Q. Given picture depicts the deficiency of?

a. Niacin
b. Retinol
c. Riboflavin
d. Tyrosine

FMGE JUNE 2022

 Wm
Iquitos
A young boy is having difficulty in breathing while running, and is
unable to rise from squatting position. His fundus examination
image is provided below. The probable condition is?
a. Tay Sachs Disease
b. Gaucher’s disease
c. Fabry’s disease
d. Krabbe’s disease

NEET PG 2022
FEW FACTS ABOUT CHERRY RED SPOTS
FEW FACTS ABOUT CHERRY RED SPOTS

● Cherry red spot is absent in KGF

FEW FACTS ABOUT CHERRY RED SPOTS

● Cherry red spot is absent in KGF

● Krabbe’s disease
● Gaucher’s disease
● Fabry’s disease
A young boy is having difficulty in breathing while running, and is
unable to rise from squatting position. His fundus examination
image is provided below. The probable condition is?
a. Tay Sachs Disease
b. Gaucher’s disease
c. Fabry’s disease
d. Krabbe’s disease

NEET PG 2022
A young boy is having difficulty in breathing while running, and is
unable to rise from squatting position. His fundus examination
image is provided below. The probable condition is?
a. Tay Sachs Disease
b. Gaucher’s disease
c. Fabry’s disease
d. Krabbe’s disease

NEET PG 2022
FACTS ABOUT GLYCOSPHINGOLIPIDOSIS
FACTS ABOUT GLYCOSPHINGOLIPIDOSIS

0
● No MR – GF
FACTS ABOUT GLYCOSPHINGOLIPIDOSIS

● No MR – Gaucher’s & Fabry’s

No Chey ned
FACTS ABOUT GLYCOSPHINGOLIPIDOSIS

● No MR – Gaucher’s & Fabry’s

000
● No Cherry Red spot – KGF
FACTS ABOUT GLYCOSPHINGOLIPIDOSIS

● No MR – Gaucher’s & Fabry’s

● No Cherry Red spot – Gaucher’s, Fabry’s and Krabbe’s

Nay
FACTS ABOUT GLYCOSPHINGOLIPIDOSIS

● No MR – Gaucher’s & Fabry’s

● No Cherry Red spot – Gaucher’s, Fabry’s and Krabbe’s

● No HSM – GM2 gangliosidosis

Tay
Sachi Sandys
FACTS ABOUT GLYCOSPHINGOLIPIDOSIS

● No MR – Gaucher’s & Fabry’s

● No Cherry Red spot – Gaucher’s, Fabry’s and Krabbe’s

● No HSM – GM2 gangliosidosis TAY SACH’S & SANDHOFF DISEASE

TAYSACH’S & SANDHOFF
DO Bensyme

LPX BB
PROPERTY TAYSACH’S DISEASE SANDHOFF DISEASE

Gone non AA TaxB

fuhunt I submit Bsuhut
Her A rn AIB
Enzyme enyme
depilate GMageywo GMatalohoudie
Mantis KRS
Gyantile
TAYSACH’S & SANDHOFF

PROPERTY TAYSACH’S DISEASE SANDHOFF DISEASE

Gene defect Hex A HexB

Subunit defect Alpha Beta

Enzyme defect Hex A Hex A & B

Lipid accumulation GM2 ganglioside GM2 ganglioside and Globoside

FACTS ABOUT GLYCOSPHINGOLIPIDOSIS

● No MR – Gaucher’s & Fabry’s

● No Cherry Red spot – Gaucher’s, Fabry’s and Krabbe’s

● No HSM – GM2 gangliosidosis Krahhes

FACTS ABOUT GLYCOSPHINGOLIPIDOSIS

● No MR – Gaucher’s & Fabry’s

● No Cherry Red spot – Gaucher’s, Fabry’s and Krabbe’s

● No HSM – GM2 gangliosidosis, Krabbe’s disease

FACTS ABOUT GLYCOSPHINGOLIPIDOSIS

● No MR – Gaucher’s & Fabry’s

● No Cherry Red spot – Gaucher’s, Fabry’s and Krabbe’s

● No HSM – GM2 gangliosidosis, Krabbe’s disease

o
● Beta Glucosidase defect causes Gaucher’s disease
Gaucher’s disease
thrombocytopenia
Bglucosylcerohoside

3
Gaucher’s disease

USM
defonuts
Boy
Gaucher 3
Bglucosidase a
Idmpownpost
d gluconedae D

s AM gayhoueto
B galactosidase
deal Faby's deseen
L galactose
 Q. A child presented with refractory anemia. Below is provided the smear of bone marrow
biopsy of the child. The probable enzyme deficiency is?

a. Beta Glucocerebrosidase
b. 1,4 Alpha glucosidase Pompei
c. Hexosaminidase A ache
d. Hexosaminidase B Tays
Sandeliffs
O
NEET PG 2023
 Q. A child presented with refractory anemia. Below is provided the smear of bone marrow
biopsy of the child. The probable enzyme deficiency is?

a. Beta Glucocerebrosidase
b. 1,4 Alpha glucosidase
c. Hexosaminidase A
d. Hexosaminidase B

NEET PG 2023
 Q. Which of the following enzyme is found to be deficient in Von Gierkes
disease?

a. Glucose 6 phosphatase
b. Branching enzyme
c. De-Branching enzyme
d. Myophosphorylase

FMGE JAN 2023

 Q. Which of the following enzyme is found to be deficient in Von Gierkes
disease?

a. Glucose 6 phosphatase
b. Branching enzyme
c. De-Branching enzyme
d. Myophosphorylase

FMGE JAN 2023

GLYCOGEN STORAGE DISORDERS
foittj
Type Name Enzyme defect

IVonhiencsdiseaie196paie.I AGE then

I

II
Pompei disease and mallailagamedao
III
I Corisduien Dehranchyenzyme
IV
Andennide Brandyenzyme
M
V
McArdle denial Madephosphorylase
VI

VII
Hori dies Hepaterphaplylene
Tanu'sdennis Peta 1 Cglywyd
GLYCOGEN STORAGE DISORDERS

Type Name Enzyme defect

I Von Gierke’s disease Glucose 6 phosphatase

II Pompe’s disease Acid Maltase or Alpha Glucosidase

III Cori’s disease Debranching enzyme

IV Anderson’s disease Branching enzyme

V Mc Ardle’s disease Muscle Phosphorylase

VI Her’s disease Liver Phosphorylase

VII Tarui’s disease Phosphofructokinase I

 9
Q –A 8 month old infant presents with fasting hypoglycemia. On
examination, hepatomegaly was observed. Blood investigations
revealed lactic acidosis, ketosis and Xanthomas on the buttocks.
What is the most probable enzyme deficiency?
a – Branching enzyme
b – Glycogen Synthase
c – Acid Maltase
d – Glucose 6 Phosphatase Von Cueris

FMGE JUNE 2021

Q –A 8 month old infant presents with fasting hypoglycemia. On
examination, hepatomegaly was observed. Blood investigations
revealed lactic acidosis, ketosis and Xanthomas on the buttocks.
What is the most probable enzyme deficiency? (JUNE 2021)
a – Branching enzyme
b – Glycogen Synthase
c – Acid Maltase
d – Glucose 6 Phosphatase

FMGE JUNE 2021

 jaHpu
CLASSIFICATION OF GLYCOGEN STORAGE
DISORDERS I Mauled
EI
try
Dgm Hy F Need
0 I
o
I W
III
EI EI
GLYCOGEN STORAGE DISORDERS WITH HYPOGLYCEMIA

S.No Type Name Features

1
0 Glycogensynthase
2
I
deficit
Voneweice
abpare
3
II CorissDehrenely
4
VI Heiss Lui
GLYCOGEN STORAGE DISORDERS WITH HYPOGLYCEMIA

S.No Type Name Features

1 0

2 I

3 III

4 VI
GLYCOGEN STORAGE DISORDERS WITH HYPOGLYCEMIA

S.No Type Name Features

1 0 Glycogen Synthase Luci fortylynoglyceni

2 I My
deficiency
Von Gierke’s disease
Mendes Enervi intern

3 III Cori’s disease

4 VI Her’s disease
GLYCOGEN STORAGE DISORDERS WITH HYPOGLYCEMIA

S.No Type Name Features

1 0 Glycogen Synthase Hypoglycemia and Exercise

deficiency intolerance and 0 glycogen in liver
2
0
I Von Gierke’s disease Severe forty dynoglycens

3 III
Teeing
Cori’s disease
X counterngulatiadat

4 VI Her’s disease
GLYCOGEN STORAGE DISORDERS WITH HYPOGLYCEMIA

S.No Type Name Features

1 0 Glycogen Synthase Hypoglycemia and Exercise

deficiency intolerance and 0 glycogen in liver
2 I Von Gierke’s disease Hypoglycemia which does not
respond to counter regulatory
hormone administration
3 III Cori’s disease
Demary Itter
99L forty lynogly a
Mule 99 l s meter
Exeni i
4 VI Her’s disease
GLYCOGEN STORAGE DISORDERS WITH HYPOGLYCEMIA

S.No Type Name Features

1
O
0 Glycogen Synthase
deficiency
Hypoglycemia and Exercise
intolerance and 0 glycogen in liver
2 I Von Gierke’s disease Hypoglycemia which does not
respond to counter regulatory
hormone administration
3 III Cori’s disease
Idudes
heart Hypoglycemia + Exercise intolerance
+ Branched glycogen remnant
4 VI Her’s disease
f
Tat
and
GLYCOGEN STORAGE DISORDERS WITH HYPOGLYCEMIA

S.No Type Name Features

1 0 Glycogen Synthase Hypoglycemia and Exercise

deficiency intolerance and 0 glycogen in liver
2 I Von Gierke’s disease Hypoglycemia which does not
respond to counter regulatory
hormone administration
3 III Cori’s disease Hypoglycemia + Exercise intolerance
+ Branched glycogen remnant
4 VI Her’s disease Hypoglycemia
ALGORITHM 0 I II I

Etsnty a
Ya
_Flat

suit dont
GLYCOGEN STORAGE DISORDERS WITH EXERCISE INTOLERANCE

III
I
VI
GLYCOGEN STORAGE DISORDERS WITH EXERCISE INTOLERANCE

S.No Type Name Features

4
GLYCOGEN STORAGE DISORDERS WITH EXERCISE INTOLERANCE

S.No Type Name Features

1 0

2 III

3 V

4 VII
GLYCOGEN STORAGE DISORDERS WITH EXERCISE INTOLERANCE

S.No Type Name Features

1 0 Glycogen synthase
deficiency
Both o
2 III Cori’s disease
Both Lit devil
3 V Mc Ardle’s Disease

4 VII Tarui’s disease

GLYCOGEN STORAGE DISORDERS WITH EXERCISE INTOLERANCE

S.No Type Name Features

1 0 Glycogen synthase Hypoglycemia + Exercise

deficiency intolerance + 0 glycogen in liver
2 III Cori’s disease Hypoglycemia + Exercise
intolerance + branched glycogen
remnant
3 V Mc Ardle’s Disease
Ennis cutlet Canadiana
send amid
4 VII Tarui’s disease
GLYCOGEN STORAGE DISORDERS WITH EXERCISE INTOLERANCE

S.No Type Name Features

1 0 Glycogen synthase Hypoglycemia + Exercise

deficiency intolerance + 0 glycogen in liver
2 III Cori’s disease Hypoglycemia + Exercise
intolerance + branched glycogen
remnant
3 V Mc Ardle’s Disease Exercise Intolerance

4 VII Tarui’s disease

Mule
pr
GLYCOGEN STORAGE DISORDERS WITH EXERCISE INTOLERANCE

S.No Type Name Features

1 0 Glycogen synthase Hypoglycemia + Exercise

deficiency intolerance + 0 glycogen in liver
2 III Cori’s disease Hypoglycemia + Exercise
intolerance + branched glycogen
remnant
3 V Mc Ardle’s Disease Exercise Intolerance

4 VII Tarui’s disease Exercise Intolerance + Hemolytic

anemia
ALGORITHM

tMT
IMeet
Hewylianen
a
geyalyt argue
aho Percy
Turbionyfadd Tanis
o
NEITHER HYPOGLYCEMIA NOR EXERCISE
INTOLERANCE
r

Met UA
ta

fate
onedato sheer
 D
Q –A 8 month old infant presents with fasting hypoglycemia. On
examination, hepatomegaly was observed. Blood investigations
revealed lactic acidosis, ketosis and Xanthomas on the buttocks.
What is the most probable enzyme deficiency? (JUNE 2021)

2
a – Branching enzyme
b – Glycogen Synthase Andentanonolyen anemia

if
c – Acid Maltase
d – Glucose 6 Phosphatase
gey
96Padefier
FMGE JUNE 2021
Q –A 8 month old infant presents with fasting hypoglycemia. On
examination, hepatomegaly was observed. Blood investigations
revealed lactic acidosis, ketosis and Xanthomas on the buttocks.
What is the most probable enzyme deficiency? (JUNE 2021)
a – Branching enzyme
EI
_y
b – Glycogen Synthase agent
c – Acid Maltase
d – Glucose 6 Phosphatase

FMGE JUNE 2021

 ● A 35-year-old man has a history of intermittent abdominal pain and
episodes of confusion and psychiatric problems. High amounts of δ-
aminolevulinate and porphobilinogen is also detected in his urine
analysis. The probable diagnosis of the patient is:
1. X-linked sideroblastic anemia
2. Acute intermittent porphyria
3. Congenital erythropoietic porphyria
4. Porphyria cutanea tarda

UP IS Yuta
HEME SYNTHESIS & PORPHYRIAS
 XI SA

MIA It
PBIMBS

BEPPO psAIP UI

Ottumppooty
PO cameo
Dj MCP
Boh
 HEME SYNTHESIS DISORDERS
S.N Enzyme Defect Name of the disorder Clinical and Biochemical Features
o
1
ALA SyntaelI VLS Anemia
2
ALA dehydrator ADP
3

4
1
HMB Sylt
Ignan AIP
5
UPIII Syntax CEP
6 UP DEE PCT
7
CPO MCP
8
PPO Vangeiteppyn
 I chelate El 1
CLASSIFICATION OF PORPHYRIAS

on
NALA
ADI
AIP PALAI PBY
CLASSIFICATION OF PORPHYRIAS

WITH NEUROPSYCHIATRIC
MANIFESTATIONS
CLASSIFICATION OF PORPHYRIAS

WITH NEUROPSYCHIATRIC
WITH PHOTOSENSITIVITY
MANIFESTATIONS
CLASSIFICATION OF PORPHYRIAS

WITH NEUROPSYCHIATRIC
WITH PHOTOSENSITIVITY BOTH
MANIFESTATIONS

ADP PALA CEP nopd

AIP MALA PCT Varyale
PBY
EPP
 CLASSIFICATION OF PORPHYRIAS

WITH NEUROPSYCHIATRIC
WITH PHOTOSENSITIVITY BOTH
MANIFESTATIONS

1. ALA DEHYDRATASE
DEFICIENT PORPHYRIA
2. ACUTE INTERMITTENT
PORPHYRIA
 CLASSIFICATION OF PORPHYRIAS

WITH NEUROPSYCHIATRIC
WITH PHOTOSENSITIVITY BOTH
MANIFESTATIONS

1. ALA DEHYDRATASE 1. CONGENITAL

DEFICIENT PORPHYRIA ERYTHROPOIETIC
2. ACUTE INTERMITTENT PORPHYRIA
PORPHYRIA 2. PORPHYRIA CUTANEA
TARDA
3. HEREDITARY
ERYTHROPOIETIC
PROTOPORPHYRIA
 CLASSIFICATION OF PORPHYRIAS

WITH NEUROPSYCHIATRIC
WITH PHOTOSENSITIVITY BOTH
MANIFESTATIONS

1. ALA DEHYDRATASE 1. CONGENITAL

ERYTHROPOIETIC 1. VARIEGATE PORPHYRIA
DEFICIENT PORPHYRIA
PORPHYRIA 2. HEREDITARY
2. ACUTE INTERMITTENT
COPROPORPHYRIA
PORPHYRIA 2. PORPHYRIA CUTANEA
TARDA
3. HEREDITARY
ERYTHROPOIETIC
PROTOPORPHYRIA
 ● A 35-year-old man has a history of intermittent abdominal pain and
episodes of confusion and psychiatric problems. High amounts of δ-
aminolevulinate and porphobilinogen is also detected in his urine
analysis. The probable diagnosis of the patient is:
a. X-linked sideroblastic anemia
b. Acute intermittent porphyria
c. Congenital erythropoietic porphyria
d. Porphyria cutanea tarda
Hereenyf
● A 35-year-old man has a history of intermittent abdominal pain and
episodes of confusion and psychiatric problems. High amounts of δ-
aminolevulinate and porphobilinogen is also detected in his urine
analysis. The probable diagnosis of the patient is:
a. X-linked sideroblastic anemia loction PUT
b. Acute intermittent porphyria ly
c. Congenital erythropoietic porphyria
d. Porphyria cutanea tarda
GLUT I RBCs Newry placenta
2 Enterocytes hepatocytes
B
D 3 RBA next placater

I Dav Shaun Carden Adupin

5 Entiocytes Lucho
has amp Seeger
Lead ALA delyduate MALA

Cpo A cpogen
A 2mi PDlevels
IFenochetalad

pp
WHAT TO DO?
THANK YOU