1 Orotic aciduria Pyrimidine metabolism HMP shunt Glycolysis Glycogenolysis / Galactose metabolism

Glucose glycogenesis
Lactose
2 G6PD deficiency ATP
Glucose
Glutamine NADPH NADP + NADPH NADP+ ADP
Hexokinase / Glucose-6- 10 15 Glactose-1-phosphate Lactase 13
9 glucokinase phosphatase
3 Lesch-Nyhan Carbamoyl
phosphate
Ribulose-5- 6-phosphogluconate Glucose-6-phosphate
Phosphoglucomutase Glucose-1- uridyltransferase Galactose-1- 14 Galactokinase Galactose
synthetase II phosphate Glucose-6- 2 phosphate phosphate
syndrome phosphate
dehydrogenase Sucrose
UDP-galactose UDP-glucose
ADP ATP
Aldose
reductase
Glucose
Carbamoyl phosphate Ribose-5- Fructose- Hexokinase Galactitol
4 Severe combined Fructose

✓
phosphate
&
Transketolase Transketolase 6-phosphate 4-epimerase
Aspartate Dihydroorotate
immunodeficiency ATP *"" """ " "" "" S
dehydrogenase PRPP Pi cataract

M
synthetase ADP
causes

(osmotic agent)
(SCID) 1 UMP synthetase
PFK-1 Fructose-1,6-
bisphosphatase
ATP
Fructokinase 16 sorbitol
Orotic acid PRPP
Fructose-1,6-bisphosphate ADP dehydrogenase
goybitol.gr#-aseAdasegu1ucose(hyperglycemia T )
5 Ornithine UMP
PRPP
amido-
Fructose- n n
1-phosphate NADP+
transcarbamylase transferase NADH Nappt NADH

Aldolase B 17
UDP Glyceraldehyde- Dihydroxyacetone
deficiency IMP 3-phosphate phosphate (DHAP) Fructose Pylol Pathway .

Ribonucleotide
reductase metabolism
6 Phenylketonuria dUDP CTP Adenine Guanine Glyceraldehyde
NAD+
cytosine AMP GMP glycerol kinase

7 Alkaptonuria
5,10-
methylene
Purine metabolism NADH
Glycerol
Acyl-CoA synthase Fatty acid metabolism
THF dUMP Acyl-CoA
Thymidylate
1,3-bisphosphoglycerate
THF synthase ADP Acyl-carnitine The carnitine shuttle is
8 Albinism Dihydrofolate DHF DTMP
Ribose-5- 18 Carnitine CAT I Cytosol important because it
reductase phosphate ATP Triglycerides moves negatively
Thymine charged fatty acids
9 Maturity onset 3-phosphoglycerate sensl 've glycerol inside Matrix which
already is highly
diabetes of the young Mit. Matrix negatively charge
GMP IMP AMP Fatty acids
CAT II
2-phosphoglycerate Carnitine Acyl-carnitine
10 Von Gierke disease Guanosine HGPRT
Inosine
4 ADA
Adenosine
NADP+
Fatty acid
GTP GDP ] synthase Acyl-CoA

"{
3 APRT Hormone sensitive lipase
NADP
convert TAG into Diacyl-
11 Pyruvate kinase Guanine PRPP Hypoxanthine Phosphoenolpyruvate
Malonyl-CoA 19 Acyl-CoA
dehydrogenase glycerol (remove 1 or 3 fatty
Xanthine Phosphoenolpyruvate ADP B. oxidation
deficiency oxidase PRPP carboxykinase 11 Pyruvate
kinase Acetyl-CoA ←
¥0
NADH acid from carbon chain)
Xanthine Adenine ATP carboxylase
Bz Be Xanthine
•
citrate Acetyl-CoA
NADPH 02 12 Pyruvate oxidase
Uric acid
Gluconeogenesis Pyruvate
•
Insulin

Cholesterol synthesis
Akhohof

L & dehydrogenase Purine salvage pathway Lactate

dehydrogenase
Pyruvate 12
dehydrogenase
Acetaldehyde
dehydro
dehydro
Ethanol
Acetate ← Acetaldehyde Cholesterol
←
NADPT deficiency Urine Oxaloacetate NADH
A
[ NAD+ ← A
Lactate Acetyl-CoA NADH
NADH

& Mevalonate

Y
NADH
Alchohol metabolism
superoxide 13 Lactose intolerance
'
+ CO ATP Aspartate NAD+ Malate Oxaloacetate
a_ 11202 Carbamoyl Citrulline Argininosuccinate
shuttle dehydogenase
NADH
Citrate synthase HMG-CoA reductase
phosphate 5 Ornithine synthase Malate / Aspartate
d → 14 Galactokinase synthetase I transcarbamylase Malate Malate NAD+ Citrate Acetoacetyl-CoA HMG-CoA
Bleach Carbamoyl Argininosuccinate TCA cycle ✓ ✗ keto acid
deficiency Infantile
→

cataract phosphate Argininosuccinate Fumarate Isocitrate A

← Leucine
Isoleucine
HMG-CoA lyase
.

lyase FADH2
NAD+
BCKDC
Acetoacetate
Ornithine Succinate Isocitrate
dehydrogenase
GALT 15 Classic galactosemia dehydrogenase FAD NADH + CO2
deficiency 's Arginine Succinate α-Ketoglutarate β-hydroxybutyrate
d- GTP NAD+
Glycine pyroloing

Ist
-

released in liver damage 16 Essential fructosuria Urea cycle Urea Arginase GDP NADH + CO2 α-Ketoglutarate
dehydrogenase Ketone metabolism
synthesis
.
-

Hearn
Hesridatory .
Succinyl-CoA
17 Fructose intolerance Maleylacetoacetate
Methylmalonyl-CoA
5, 10-methylene
THF Methylene
Homogentisic acid 7 mutase Pyrimidines tetrahydrofolate
dioxygenase + lipids reductase (MTHFR)
18 Systemic 1° carnitine Thiamine (B1) Homogentisate Melanin Methylmalonyl-CoA
THF
5-methyl
THF
deficiency Riboflavin (B2) 6 Phenylalanine
hydroxylase
Tyrosinase 8
Phenylalanine Tyrosine DOPA
Niacin (B3) DOPA
Propionyl-CoA Methionine
Methionine
Homocysteine
21 Cystathionine
Cystathionine Cysteine
Cystathionase
19 MCAD deficiency Pantothenic acid (B5) decarboxylase Branched-chain
synthase synthase
α-ketoacid dehydrogenase
Dopamine S-adenosyl S-adenosyl
Pyridoxine (B6) 6 Dihydrobiopterin 6 Dihydrobiopterin
Dopamine B-hydroxylase
complex 20
methionine (SAM) homocysteine
20 Maple syrup urine reductase reductase α-ketoacid

BCKD-cvitamincPNMT-E-nnz.gg
Biotin (B7)
disease Norepinephrine ATP
Folate (B9) Phenylethanolamine- • Valine
Cobalamin (B12) Amino acid metabolism N-methyltransferase
Methylation Homocysteine metabolism
21 Homocystinuria Epinephrine
• Isoleucine
mmeterrmmiinnologgyy .

① Kinase : adds phosphate Ctohigh energy substrate)

② phosphatase : removes phosphate • • •

phosphate Niacin < Tryptophan > serotonin Arginine > Nitric oxide
③ Phosphorylase adds inorganic :
v v
Performs redox
⑨ Dehydrogenase :
Btlz BHU
Btly Btlz
⑨ Mutase : rearranges afunctionalgooub n
.

⑥ Hydroxylase : adds
-

OH
☐ ihydrobioptin Dihydrobioptin
transfer reductase This study material is dedicated to the Almighty
⑦ carboxylase coz :
reductase .

my strength and power, who led me in the right way for success.
To my parents and family who had dreams about me
and to my teachers who showed me the right path.