BC HY Diseases

USMLE High Yield Biochemistry Diseases
Study online at https://quizlet.com/_8joigk
1. What happens in Gout excess uric acid
2. What is prophylaxis for gout allopurinol which inhibits Xanthine

oxidase
3. What is issues with Allopurinol and 6-mercatopurine is elminated by

6-mercaptopurine xanthine oxidase which is not work-
ing if you take allopurionol
4. What happens in lesch-nyhan syn- X linked absence of HGPRT

drome?
5. What pathway is increased in De novo purine syntheiss as you

Lesch-Nyhan Syndrome have deficiency of HGRPT
6. What is seen on peripherla smear of Heinz bodies and bite cells

glucose 6 phosphate dehydrogenase
deficiency
7. Patient presents with self-mutilation, Lesch-Nyhan Syndrome

hypotonia, and chorea as a young
child what is diagnosis?
8. What happens in orotic aciduria? Defect in UMP synthase leads to

inability to form pyrimidines
9. What is presentation of orotic You will have megaloblastic anemia

aciduria? which cannot respond to B12 or fo-
late alongside orotic acid in urine
and growth retardation
10. Patient presents with megaloblastic Orotic aciduria

anemia which cannot respond to B12
or folate alongside orotic acid in urine
and growth retardation what is likely
diagnosis?
11. What is treatment of orotic aciduria? Uridine
12.
1 / 21
Why do you have increase orotic acid You are unable to combine
in Ornithine Transcarbamylase defi- carmaboyl phosphate with ornithine
ciency? so carbamoyl phosphate is shunted
to makre orotic acid
13. What disease presents with orotic Ornithine Transcarbamylase defi-

acid in urine with hyperammonia ciency
14. What disease presents with orotic Orotic aciduria

acid in urine without hyperammonia
15. Patient presents with hyperammonia, Ornithine Transcarbamylase defi-

encephaltiis, and orotic aciduria what ciency
is diagnosis?
16. What part of thymidine synthesis is required to regernate THF from its
Vit B12 needed for? modified form essentially recycling
it
17. What happens in Glucokinase defi- pancreas thinks there is low blood
ciency sugar when it is actually high and
does not secrete insulin leading to
hyperglycemia as the liver does not
take up enough sugar after a meal
18. What conditions increase LDH in hemolysis, myocaridal infarction,

plasma tumors
19. What is pathology of muscle cramps? elevated NADH/NAD ratio leads to

LDH activity to recover NAD+ which
in turn increases lactic acid and
leads to cramps
20. What happens in Pyruvate Kinase De- rbc do not have enough ATP to
ficiency maintian their membrane leading to
hemolysis and splenomegaly
21. What is presentation of Pyruvate Ki- newborn with extravascular hemol-

nase Deficiency ysis and splenomegaly
2 / 21
22. Newborn presents with extravascular Pyruvate Kinase Deficiency
hemolysis with splenomegaly what
metbaolism diasease could this be
23. What is presentation of Biotin defi- dermatitis, glossiits (tongue inflam-

ciency mation), nasueae, and anorexia
24. What happens in Von Gierke Disease defeicny in glucose-6-phosphatase

which means you cannot turn g6p
to glucose
25. What is presentaiton from Von Gierke infancy with lethargy, seizures, and
Disease lactic acidosis and sever hypo-
glycemia
26. Infant presents with infancy with Von Gierke disease

lethargy, seizures, and lactic acido-
sis and severe fasting hypoglycemia
what is diagnosis?
27. What happens to lactic acid in Von increased

Gierke Disease
28. What is treatment of Von Gierke Dis- oral glucose

ease
29. What happens in Pompe Disease deficiency of a1,4 glucosidase in

lysosomes
30. What is presentation of Pompe Dis- cardiomegaly, hypotonia, and en-

ease larged tongue
31. Newborn presents with car- Pompe disease

diomegaly, hypotonia, and enlarged
tongue what is the diagnosis
32. What is cause of death in Pompe dis- heart failure

ease
33. What happens in Cori disease deficieny in debranching enzyme
3 / 21
34. What is presentation of Cori disease mild hypoglycemia, hepatomegaly,
and hypotonia
35. Is there lactic acidosis in cori disease no
36. infant presents with mild hypo- cori disease

glycemia, hepatomegaly, and hypoto-
nia what is diagnosis
37. What happens in Mcardles disease muscle glycogen phosphorylase

deficiency
38. What is presentation of MCardles dis- presents in adolesence with excer-

ease cise intolerance, fatigue, poor en-
durance, and cramps as well as my-
globinuria (urine turns dark after ex-
cercise)
39. What defieicny causes fasting hy- glycogen synthase deficiency

poglycemia in absence of he-
patomegaly
40. What substance accumulates in cori limit dextrins

disease
41. What two monosacharides do you galactose and fructors

avoid in von-gierkes disease
42. What amino acid will be elevated in Alanine as the conversion of pyru-
von gierke disease? vate (which alanine is converted to)
to glucose is disuptred in the liver
43. What happens in chornic granu- loss of function of NADPH oxidase

loamouts idsease
44. Which type of organisms are in- catalase positive

creased in chornic grnaulomatous
disease
45.
4 / 21
What are the 5 important organisms staph aurerus, psuedomaons, sera-
of chornic granulomatous disease tia, nocarida, aspergillus
46. glucose 6 phosphate dehydrogenase NADPH

defieicny will cause an inability to
form what substance
47. What is inheritance of glucose 6 This is a X linked disorder

phosphate dehydrogenase
48. Patient presents with recurrent he- glucose 6 phosphate dehydroge-

molysis leaidng to dark urine after ex- nase deficiency
posure to an oxidative stress trigger
what is the diagnosis
49. What is presentation of glucose 6 recurrent hemolysis leaidng to dark

phosphate dehydrogenase deficien- urine after exposure to an oxidative
cy stress trigger what is the diagnosis
50. What are triggers of glucose 6 phos- infection as macrophages generate

phate dehydrogenase deficiency free radicals, fava beans which con-
tain oxidants, and drugs
51. What drugs can trigger glucose 6 sulfa drugs, INH, dapsone, and
phosphate dehydrogenase deficien- anti-malarials
cy
52. How is NADPH used in regards to NADPH serves as a cofactor for

degerdation og H2O2 production of glutathione via glu-
tathione reductase
53. Why will RBC in glucose 6 phos- accumulation of H2O2

phate dehydrogenase defieicny un-
dergo hemolysis
54. Test for Glucose 6 phosphate dehy- flourescent spot test

drogenase is done through that exam
55. NADPH is required for synthesis of fats

what type of macro in the body?
5 / 21
56. Incidence of wernicke-korsakoff is altered transketolase activity in their

through to arise to small population fibroblasts
of alcoholics with?
57. What happens to magenisum levels hypomagensiemia

in alcoholics?
58. What form of glutathione will be in- Glutatione disulfide

creased in glucose 6 phosphate de-
hydrogenase defieicny patients?
59. What substance can you not make in Superoxide O2-

chronic granulomatous disease?
60. What happens in Essential fructo- benign deficiency of fructose kinase

suria leading to fructose in urine
61. What happens in Hereditary fructose deficiency of aldolase B leading to

intolerance buildup of F1P and depletion of ATP
in the liver
62. What happens to phosphate in Hered- body cannot metabolize F1P which
itary fructose intolerance causes sequestering of phosphate
leading to decrease in glycogen
breakdown
63. What is presentation of Hereditary hypoglycemia and hepatomegaly

fructose intolerance leading to liver failure in a baby
that has just been weened off from
breast-milk
64. Child just weened off breast milk Hereditary fructose intolerance
presents with hypoglycemia and he-
patomegaly leading to liver failure
what is diagnosis
65. What is treatment of Hereditary fruc- Avoid sorbitol, sucrose, and fruc-
tose intolerance tose
66.
6 / 21
What happens in Classic Galac- deficiency in GALT with Galactose
tosemia 1 Phosphate accumulating in cells
leading to accumulation of galactitol
67. What is presentation of Classic neonate in first days of life with liv-
Galactosemia er failure, jaundice, hepatomegaly,
and catarcts
68. neonate in first days of life with liver Classic Galactosemia

failure, jaundice, hepatomegaly, and
catarcts is likely what diagnosis
69. What is treatment for Classic Galac- avoid galactose

tosemia
70. What happens in Galactokianse defi- glactose cannot be converted to

ciency Galactose 1 Phosphate resulting
in galactose accumulating in blood
and urine
71. What ocular issue can Galactokianse cataracts

deficiency cause
72. What will absnece of galactokianse decreased

do to hepatocyte ability to take up
galactose
73. What happens in Thiamine deficiency Beriberi and Wernicke-korsakoff

syndrome
74. What happens in Wernicke-korsakoff malnourished, poor vitamin absorp-

syndrome tion, confusion, confabulation
75. Do you give glucose or thiamine first you give thiamine first before you
to an alcoholic give glucose because without it you
will not be able to convert pytuvate
to Acetyl-CoA as it is a cofatcor for
Pyruvate dehydrogenase
76. lipoic acid

7 / 21
Arsenic will inhibit which cofactor of
pyrvaute dehydorgeanse
77. arsenic gets oxidize leading to what garlic smell of breath

smell
78. What happens in PDH complex defi- inborn error of meatbolism where
ciency pyruvate is shunted to alanine and
lactate as these patients are unable
to make acetyl CoA
79. What is inheritance of PDH complex X linked

deficiency
80. What is common mutation in PDH mutations in PDHA1 gene

complex deficiency
81. What is presentation of PDH complex elevated alanine, lactic acidosis,

deficiency poor feeding, grwoth failure, devel-
opmental delay
82. Child presents with elevated ala- PDH complex deficiency

nine, lactic acidosis, poor feeding,
grwoth failure, developmental delay
what metabolism issue is the diagno-
sis
83. What is treatment for PDH complex thiamine and lipoic acid to optimise
deficiency the remaingin PDH enzyme and ke-
togenic diet
84. Carbon monoxide can inhibit Cy- Fe2+ iron

tochromes by binding to what form of
iron
85. Cyanide can inhibit what part of the Complex 4 by binding to Fe3+ iron
ECT
86. What is a major sign of Cyanide Poi- Bright red venous blood (oxgyen is
soning not getting extracted)
8 / 21
87. Patient presents with almond smell cyanidie posinoing

and lactic acidosis what is likely di-
agnosis
88. In a clinical setting what substance Nitroprusside

can restult in cyanide poisoning
89. How does amyl nitrites work as treat- converts Fe2+ to FE3+ and cyan-
ment for cyanide poisoning dide is then sequestered by RBC
and protects the mitochondira in the
body
90. what macrolide antibiotic which in- Oligomycin A

hibits ATP synthase preventing pro-
duction of ATP
91. What is firstline treatment of cyanide Hydroxocobalamin alongside pos-

toxicity? sible thiosulfate
92. What are causes of Carnitine defieic- malnutrion, liver disease, hemodial-
ny ysis, and trauma such as burns
93. What happens in carnitine deficiency inhibition of transport of

long-chain-fatty-acids into mito-
chondira resulting in accumulation
of long-chain-fatty-acids in cells
94. What is seen on labs of carnitine de- low carnitine and acylcarnitine lev-
ficiency els
95. What is presentation of carnitine de- muscle weakness during excer-

ficiency sie, cardiomyopathy, hypoglycemia
without ketones during fasting as
you cannot metabolize fatty acids
into ketones
96. What happens in Primary systemic mutation of carnitine uptake into

carnitine deficiency cells presenting in first 2 years of life
97.
9 / 21
What is presentation of Primary sys- encephalopathy, hepatomgely, hy-
temic carnitine deficiency perammonemia, hypokeotic hypo-
glycemia, low serum carnitine
98. What happens in medium chain poor oxidatoin of 6-10 carbon fatty
acyl-CoA dehydrognease Deficiency acids
99. What is presentation of medium hypoglycemia without ketones dur-

chain acyl-CoA dehydrogenase defi- ing fasting with dicarboxylic acids
ciency with 6-10 carbons will be seen in
urine
100. How do you distinguish MCAD from high acylcarnitine levels in MCAD
carnitine deficiency
101. What is treatment for MCAD avoid fasting
102. What happens in Methylmalonic defieicny in Methylmalonyl-CoA

acidemia mutase which would normally con-
vert it to succinyl-CoA resulting in
anion gap acidosis and CNS dys-
function
103. Why do type 1 diabetics have in- they have low insulin which leads
creased ketone production? to glucagon sending oxaloacetate
to gluconegogensis which reduces
the amount of oxaloacetate in the
TCA and Acetyl-CoA is then instead
shunted toward production of ke-
tones
104. Why is ketone production increased NADH levels increase from metab-
in alcholism? olism of ethanol which forces ox-
aloacetate to mvoe towards malate
to recover NAD+ this reduces the
amount of oxaloacetate in the TCA
and Acetyl-CoA is then instead
shunted toward production of ke-
tones
10 / 21
105. What are the 4 conditiuons for in- starvation, DKA, insuffiicent insulin
creased ketones in urine? in diabeteics, alcholism
106. How can lactic acidosis induce gout the uric-acid lactic exchanger is
overactive trying to remvoe lactic
acid so uric acid is pulled from urine
into the blood which results in gout
107. What happens if you combine aceta- CYP induction by alcohol use leads
minophen with chronic alcohol use? to acetaminophen toxicity which is
hepatotoxic
108. What happens to levels of mal- increased

onyl-CoA in hepatocytes in al-
cholics?
109. If you have hypoglycemia, lactic aci- Classic Galactosemia and Heredi-
dosis, and ketosis after feeding what tary Furctose Intolerance
metabolism error can it be
110. If you have hypoglycemia, lactic aci- Hereditary Furctose Intolerance

dosis, and ketosis after feeding fol-
lowing cessation of breast feedinf
what metabolism error can it be
111. If you have hypoglycemia, lactic aci- Classic Galactosemia

dosis, and ketosis after feeding fol-
lowing begining of breast feeding
what metabolism error can it be
112. If you have hypoglycemia, lactic aci- Von Gierke disease

dosis, and ketosis when you are fast-
ing what metabolism error can it be
113. What happens in Maple Syrup Urine deficiency of A-ketoacid dehydro-

Disease- genase leading to an inability to
metabolize valine, leucine, and
isoleucine
114.
11 / 21
Why do you have sweet smell in A-keto acids build up in urine with
maple syrup urine disease sweet smell
115. do you have hypoglycemia in Maple no

Syrup Urine Disease
116. What happens in Ornithine transcar- inability to combines ornithine and

bamylase deficiency carbamoyl phosphate into citrulline
which increases carbamoyl phos-
phate in serum which is shunted
into pyrimidine synthesis which in-
creases orotic acic
117. What is inhertiance of Ornithine tran- X linked

scarbamylase deficiency
118. What is presentation of Ornithine hyperammoeniea, increased orot-

transcarbamylase deficiency ic acid, and increased carbamoyl
phospahte
119. what is error in Orotic Aciduria UMP synthase deficiency
120. What is presentation of Orotic normal ammonia levels with orotic

Aciduria aciduria and megaloblastic anemia
which can not be fixed by Vit B12 or
folate
121. in sickle cell aenima you replace what glutamate for valine
with what
122. What happens in sickle cell anemia in the replacement of a polar amino
regards to polarity of new hemoglo- acid for a non-polar acid changes
bin the protein structure
123. What happens in Phenylketonuria deficiency of phenylalanine hydrox-

ylase activity
124. What accumulates in Phenylke- phenylalanine

tonuria
12 / 21
125. What is presentation of Phenylke- lack of melanin leading to pale skin,
tonuria fiar hair, blue eyes as well as retar-
dation, seizures, and tremors and
musty smell of urine
126. Patient presents with pale skin, fiar Phenylketonuria

hair, blue eyes as well as retarda-
tion, seizures, and tremors and musty
smell of urine
127. What is treatment for Phenylke- restriction of phenylalalnine (syn-

tonuria thetic sweetners such as aspar-
tame)
128. What is issue in Maternal Phenylke- high levels of phenylalanine act as

tonuria teratogenic leading to microcephaly
129. What is a rare case of Phenylke- BH4 deficiency

tonuria
130. What happens in Oculocutaneous al- Absent melanin arising from defi-
binism ciency in tyrosinease or tyrosine
transporters
131. What happens in Alkaptonuria deficiency of homogentisic acid oxi-

dase causing increase of homogen-
tisic acid
132. What is seen on X ray of Alkaptonuria calcification of intervertebral disks

is seen
133. What is presentation of Alkaptonuria urine turns black on standing,

arthritis in large joints, and pigment
is depositied in connective tissues
causing ochronosis
134. Patient presents with black urine, Alkaptonuria

arthritis in large joints, ochronosis
what is diagnosis
13 / 21
135. high Metanephrine levels may be a pheochromocytoma due to being
sign of what cancer a sign of high catechloamine turn
over
136. What happens in Hartnup disease absence of amino acid transporter

in the proximal tubule leading to
loss of tryptophan by urine
137. Hartnup disease presentation mimics niacin deficiency

what deficiency
138. What happens in niacin deficiency pellagra: hyperpigmentation rash,

glossitis, diahrea, dementia
139. What is treatment of Hartnup disease treatment is high protein diet and
niacin
140. What enzyme is used to breakdown a-keto acid dehydroge-

branched chain amino acids nase/branched chain a-keto acid
dehydrogenase complex
141. What is presentation of homocystin- lens dislocation, long limbs, chest

uria deformities, osteoproosis, mental
redaration, and blood clots
142. Patient presents with lens disloca- homocystinuria

tion, long limbs, chest deformities,
osteoproosis, mental redaration, and
blood clots what is likely diagnosis
143. how does homocystinuria differs marfans does not have blood clots,
from marfans mental retardation, or osteoporosis
144. What happens in Classic homo- deficiency of cystathione B syn-

cystinuria thase leading to homocystinuria
145. what is difference in cystine and cystine is 2 cysteine molecules

cystiene linked together2
146. What happens in Cystinuria

14 / 21
decreased reabsorption of cystine
in proximal tubule of nephron result-
ing in kidney stones
147. What is treatment of Cystinuria methionine free diet
148. Hexagonal crystals in a kidney stone Cystinuria

indicates what pathology
149. what accumulates in the blood of homocystine and methionine

Classic homocystinuriapatients?
150. anti-cyclic citruline peptide antibod- rheumatoid arthritis

ies are seen in what disease
151. What are signs of hyperammonemia asterixis (termor of palms up hands

flapping), cerbeal edema, memory
impariment, vomit, slurred speech,
coma
152. Patient present with asterixis, vomit- hyperammonemia

ting, and slurred speech what is likely
cause
153. treatment of hyperammonemia is to further lactulose is a laxative will

place them on a low protein diet lower colonic pH which lowers plas-
ma ammonia
154. What is a laxative treatment of hyper- lacutolose which will lower colonic
ammonemia pH and in turn lower plasma ammo-
nia
155. What is the treatment of hyperam- sodium phenylbutyrare is a detoxi-

monemia secodnary to enzymatic de- cant which is conjugate with gluta-
ficiency mine and is excreted in the urine
156. What happens in Citrullinemia deficiency of argininosuccinate syn-

thase resulting in an inability to re-
cycle citruline to ornithine
15 / 21
157. Patient presents with increased citru- Citrullinemia
line, low arginine, and hyperammone-
miawhat is diagnosis
158. What is presentation of Citrullinemia increased citruline, low arginine,

and hyperammonemia
159. What is presentation of wet beriberi high output heart failure, tachycar-
dia, edema polyneuritis and muscle
atrophy
160. What is presentation of dry beriberi polyneuritis and muscle atrophy
161. Patient presents with high output wet beriberi

heart failure, tachycardia, edema,
polyneuritis and muscle atrophy what
is diagnosis
162. Patient presents with polyneuritis dry beriberi

and muscle atrophy what is diagnosis
163. Patient presents with confusion, con- Wernicke-Korsakoff syndrome

fabulation, ataxia, blurred vision and
smells of alcohol what is likely diag-
nosis
164. Patient presents with deramtitis, B2 aka riboflavin deficiency

glossitis, and cheilitis what is diagno-
sis
165. What diet will result in niacin defi- Corn diet

ciency
166. patient presents with dermatiis, diar- pellagra aka niacin deficiency
rhea, dementia what is diagnosis
167. How does INH therapy induce niacin decreased B6 activity which results
deficiency in inability to make niacin from tryp-
tophan
16 / 21
168. How does hartnup disease induce absence of amino acid transporter
niacin deficiency in proximal tubule leading to loss of
tryptophan into urine
169. How does Carcinoid syndrome in- using up all the tryptophan to make
duce niacin deficiency serotonin
170. Patient presents with burning feet B5 deficiency

with numbess and paresthesia what
is diagnosis
171. What is seen in b5 deficiency burning feet with numbess and

paresthesia and possible adernal
insufficiency
172. pyridoxal phosphate is a further re- it is required to make gam-

quried for synthesis of what part of maaminoleuvlinic acid to make
RBC heme leading to sideroblastic ane-
mia in it's absence
173. Vit B6 overdose can result in what sensory neuropathy commonly in

presentation the legs
174. deficiency in either Vit B12 or folate megaloblastic anemia and in-
would both result in creased homocysteine
175. What Drugs induce folate metabolism Phenytoin, trimethoprim,

methotrexate
176. What is MOA of Phenytion in regards inhibits absorbtion of folate from GI

to folate
177. What is MOA of Tirmethoprim and both inhibit dihydrofoalte reductase

methortrexate in regards to folate which stops foalte from being made
into THF
178. Vit B12 is found only in what food meats
179. Vit B12 is absorbed in which part of terminal ileum

the GI
17 / 21
180. Ileum or gastric bypass can also in- Vit B12
duce deficiecny fo what vitamin?
181. Do you continue hydroxyurea in preg- no

nant sickle cell patient?
182. What happens in deficiency of Vit A night blindness and keratinization of

the corena, in children will lead to
grwoth failure
183. Vit A can be used as therapy for what measles

virus
184. What is Treatment of methomoglobi- Vit C

enami
185. Excess Vit C leads to what presenta- iron overload and kidney calcium
tion oxalate stones
186. What happens to PTH in renal failure increased phosphate which se-
qusters Calcium from plasma which
induces hypocalcemia and increas-
es PTH synthesis
187. Excess Vit D leads to what hypercalcemia and hypercaliuria as

well as kidney stones
188. What happens in Vit E deficiency hemolytic anemai with muscle

weakness, ataxia, and dysmetria
189. Patient presents with hemolytic ane- Vit E

mai with muscle weakness, ataxia,
and dysmetria what substance is ab-
sent
190. Vit K deficiency will show what labs elevated PT and normal bleeding
time
191. Why do newborns have low Vit K sterile GI at birth
18 / 21
192. Why can antibiotics induce vit K de- antibiotics may kill GI abcteria
fiecny which produce vit K
193. What happens in Acrodermatitis En- impaired zinc absorption

teropathica
194. What is presentation of Acrodermati- hyperpigmented skin which is peri-

tis Enteropathica oral and perianal with loss of hair,
diarrhea, and poor growth
195. patient presents with perioral and pe- Acrodermatitis Enteropathica

rianal hyperpigmented skin with loss
of hair, diarrhea, and poor growth
what is likely diagnosis
196. What happens in Abetalipoproteine- defect in microsomal triglyceride

mia transferance where chylomicrons
and VLDL lack Apoprotein B thus
chylomicons lack B48 and VLDL
lacks B100
197. What happens in Abetalipoproteine- chylomicorns without b48 results in

mia if you don't have B48 lipids accumulate in intestines and
you cannot absorb KADE vitamins
and induces vitamins
198. What happens in Abetalipoproteine- low levels of VLDL, IDL, and LDL
mia if you don't have B100
199. What is presentation of Abetalipopro- steatorhea, abdominal distention,

teinemia failure to thrive, poor vision, aaxia,
hemolysis
200. Patient presents with steatorhea, ab- Abetalipoproteinemia

dominal distention, failure to thrive,
poor vision, ataxia, hemolysis and
on biopsy you see accumulation of
lipids in enterocytes what is diagno-
sis
19 / 21
201. What is seen on biopsy of Abetal- accumulation of lipids in entero-
ipoproteinemia cytes
202. What is seen on peripheral smear of acanthocytosis (spikey membrane

Abetalipoproteinemia RBC's) will be seen
203. What are Pharmaceutical causes of beta blockers and Hydrochloroth-

Secondary hyperlipidemia iazide (small increase)
204. What are Signs of hyperlipidemia xanthomas, tendinous xan-

thomase, conreal arcus (seen on
fundoscopy)
205. What happens in hypercholymicrone- deficiecny in lipoprotein lipase or

mia apo-C2 deficiency resulting in in-
ability to break down triglycerides
into fatty acids
206. What is presentation of hyper- very high triglycerides and chylomi-

cholymicronemia crons and recurrent pancreatitis
207. What happens in familial hypercho- absence of LDL receptors leaidng

lesterolemia to inability to clear LDL form serum
208. What is presentation of familial hy- very high LDL and severe athero-
percholesterolemia scelerosis at a young age
209. What happens in Type 3 familial dys- ApoE2 subtype mutation resulting
betalipoproteinemia in accumulation of VLDL and chy-
lomicron remnants
210. Patient presents with xanthomas familial dysbetalipoproteinemia

and premature coronary diseasewhat
should be considered
211. What happens in Type 4 hypertriglyc- excess VLDL leading to increased

eridemia triglycerides
212. not fasting before drawing blood
20 / 21
What is most common casue of iso-
lated high triglyceride levels in pa-
tient?
213. How can you differntiant Lipopro- Lipoprotein lipase deficiency will
tein lipase deficiency (hyperchy- have isolated triglyceride increase
lomicornemia) and familial dysbetal-
ipoproteinemia?
214. What is seen on labs of familial dys- high cholesterol and triglycerides
betalipoproteinemia?
215. Patient labs shows isolated exterem- hypercholymicronemia (lipoprotien

ly high triglycerides >1000 what lipase deficiency)
should be considered?
216. Patient labs show elevated total cho- familial hypercholesterolemia (ab-
lesterol and high LDL what should be sence of LDL receptors)
considered?
217. Patient labs show increased choles- familial dysbetalipoproteinemia

terol and triglycerides what should be (APOEe2 mutation)
considered?
218. Patient labs shows isolated in- hypertriglyceridemia

creased triglycerides 200-500 what
should be considered?
21 / 21

BC HY Diseases

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BC HY Diseases

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USMLE High Yield Biochemistry Diseases

Study online at https://quizlet.com/_8joigk

1. What happens in Gout excess uric acid

2. What is prophylaxis for gout allopurinol which inhibits Xanthine

3. What is issues with Allopurinol and 6-mercatopurine is elminated by

4. What happens in lesch-nyhan syn- X linked absence of HGPRT

5. What pathway is increased in De novo purine syntheiss as you

6. What is seen on peripherla smear of Heinz bodies and bite cells

7. Patient presents with self-mutilation, Lesch-Nyhan Syndrome

8. What happens in orotic aciduria? Defect in UMP synthase leads to

9. What is presentation of orotic You will have megaloblastic anemia

10. Patient presents with megaloblastic Orotic aciduria

11. What is treatment of orotic aciduria? Uridine

13. What disease presents with orotic Ornithine Transcarbamylase defi-

14. What disease presents with orotic Orotic aciduria

15. Patient presents with hyperammonia, Ornithine Transcarbamylase defi-

18. What conditions increase LDH in hemolysis, myocaridal infarction,

19. What is pathology of muscle cramps? elevated NADH/NAD ratio leads to

21. What is presentation of Pyruvate Ki- newborn with extravascular hemol-

23. What is presentation of Biotin defi- dermatitis, glossiits (tongue inflam-

24. What happens in Von Gierke Disease defeicny in glucose-6-phosphatase

26. Infant presents with infancy with Von Gierke disease

27. What happens to lactic acid in Von increased

28. What is treatment of Von Gierke Dis- oral glucose

29. What happens in Pompe Disease deficiency of a1,4 glucosidase in

30. What is presentation of Pompe Dis- cardiomegaly, hypotonia, and en-

31. Newborn presents with car- Pompe disease

32. What is cause of death in Pompe dis- heart failure

33. What happens in Cori disease deficieny in debranching enzyme

35. Is there lactic acidosis in cori disease no

36. infant presents with mild hypo- cori disease

37. What happens in Mcardles disease muscle glycogen phosphorylase

38. What is presentation of MCardles dis- presents in adolesence with excer-

39. What defieicny causes fasting hy- glycogen synthase deficiency

40. What substance accumulates in cori limit dextrins

41. What two monosacharides do you galactose and fructors

43. What happens in chornic granu- loss of function of NADPH oxidase

44. Which type of organisms are in- catalase positive

46. glucose 6 phosphate dehydrogenase NADPH

47. What is inheritance of glucose 6 This is a X linked disorder

48. Patient presents with recurrent he- glucose 6 phosphate dehydroge-

49. What is presentation of glucose 6 recurrent hemolysis leaidng to dark

50. What are triggers of glucose 6 phos- infection as macrophages generate

52. How is NADPH used in regards to NADPH serves as a cofactor for

53. Why will RBC in glucose 6 phos- accumulation of H2O2

54. Test for Glucose 6 phosphate dehy- flourescent spot test

55. NADPH is required for synthesis of fats

56. Incidence of wernicke-korsakoff is altered transketolase activity in their

57. What happens to magenisum levels hypomagensiemia

58. What form of glutathione will be in- Glutatione disulfide

59. What substance can you not make in Superoxide O2-

60. What happens in Essential fructo- benign deficiency of fructose kinase

61. What happens in Hereditary fructose deficiency of aldolase B leading to

63. What is presentation of Hereditary hypoglycemia and hepatomegaly

68. neonate in first days of life with liver Classic Galactosemia

69. What is treatment for Classic Galac- avoid galactose

70. What happens in Galactokianse defi- glactose cannot be converted to

71. What ocular issue can Galactokianse cataracts

72. What will absnece of galactokianse decreased

73. What happens in Thiamine deficiency Beriberi and Wernicke-korsakoff

74. What happens in Wernicke-korsakoff malnourished, poor vitamin absorp-

76. lipoic acid

77. arsenic gets oxidize leading to what garlic smell of breath