Clinical Biochemistry

Question 1

Organ most affected by MELAS

Answer 1

Brain (Most metabolically active)

Question 2

Disease characterized by NADPH-oxidase deficiency susceptible to infections from catalase positive organisms

Answer 2

Chronic Granulomatous disease

Question 3

Patient with hemolytic anemia with fava beans intake will most likely have hemolytic anemia from ingestion of which of the ff? 
A) Metoprolol 
B) Dignoxin 
C) TMP SMX
D) Metformin

Answer 3

TMP SMX

Question 4

Enzyme Deficiency:

Benign asymptomatic condition where fructose appears in the urine in large amounts.

Answer 4

Fructokinase

Question 5

Enzyme Deficiency:

Fructose intolerance, hypo-glycemia jaundice, vomiting

Answer 5

Aldolase B

Question 6

Enzyme Deficiency:

Mild form of galactosemia with infantile cataracts

Answer 6

Galacto-kinase

Question 7

Enzyme Deficiency:

Glactosemia + severe hepatomegaly + failure to thrive

Answer 7

Galactose 1 phosphate Uridyl-transferase

Question 8

Enzyme Deficiency:

Build up of un-metabolized _______ leads to damage to Schwann cells, kidney and retina

Answer 8

Sorbitol dehydrogenase

Question 9

Elderly asian with bout of gastroenteritis has repeat bloating flatulence, diarrhea after milk ingestion

Answer 9

Lactose intolerance

Question 10

Hyper-ammonemia depletes which TCA cycle intermediate

Answer 10

Alpha Keto-glutarate

Question 11

MC urea cycle disorder INC orotic acid in blood and urine + hyper-ammonemia

Answer 11

Ornithine Trans-carbamylase deficiency

Question 12

Musky body odor, fair skin, intellectual disability, seizures

Answer 12

Phenyl-keton-uria

Question 13

Enzyme Deficiency:

Dark connective tissue disorder, urine turns black with prolonged air exposure

Answer 13

Homogentisic oxidase deficiency

Alkaptonuria

Question 14

Homocytinuria can be due to deficiency of what 2 enzymes

Answer 14

Cysta-thionine synthase

Homo-cysteine-methyl-transferase deficiency

Question 15

Osteoporosis
tall stature, 
kyphosis, 
lens subluxation (down and inward), 
atherosclerosis

Answer 15

Homo-cystinuria

Question 16

Other amino acids involved in cystinuria

Answer 16

Cysteine Ornithine
Lysine
Arginine

(In addition to the Cystathionine synthase and homo-cysteine-methyl-transferase)

Question 17

Maple syrup urine disease has decreased breakdown of what amino acid

Answer 17

Iso-leucine
Leucine
Valine

Question 18

Glucose 6 phosphatase deficiency is also known as

Answer 18

Von Gierke

Question 19

Enzyme Deficiency:
Pompe 
Cardio-myopathy
Early death 
Glycogen storage disease

Answer 19

Acid maltase deficiency

Question 20

MC Sphingo-lipid storage disease

Crumpled tissue paper appearance of lipd laden macrophages

Answer 20

Gauchers-Gluco-cerebro-sidase deficiency

Question 21

Hepatosplenomegaly, cherry red spot macula, foam cells

Answer 21

Niemann Pick Sphingo-mylinase deficiency

Question 22

Cherry Red spot, mental retardation, lysosome with onion skinning, (-) hepatosplenomegaly

Answer 22

Tay Sach’s
Hexosaminidase A deficiency –>

GM2 Ganglioside accumulation

Question 23

Lipo-protein-lipase deficiency INC serum chylomicrons

Answer 23

Type 1 Familial Hyper-lipo-protein-emia

Question 24

Defective LDL receptors familial

Answer 24

Type 2 A

Question 25

Familial Hyper-triglyceride-mia

Answer 25

Type 4

Question 26

Committed step of heme synthesis

Answer 26

ALA synthase

Question 27

Enzyme deficient in Severe combined immuno-deficiency

Answer 27

Adenosine Deaminase

Question 28

Hyper-uricemia is seen in which glycogen storage disease

Answer 28

Von Gierke

Question 29

Enzyme Deficiency | Hyper-uricemia, self-mutilation,

Answer 29

HGPT-tase deficiency

Question 30

Lesch nyhan invovles what pathway

Answer 30

Salvage pathway

Question 31

Ezyme inhibited by febuxostat and allopurinol

Answer 31

Xanthine oxidase

Question 32

Glycogen storage dse: | Severe hypo-glycemia because glucose is trapped in the hepatocyte and cannot be released into the blood

Answer 32

Glucose 5 phosphatase deficiency "Von Glerke's" Glycogen Storage Disease

Question 33

Glycogen storage dse - Associated w heart failure - Acid maltase def

Answer 33

Pompe's

Question 34

Glycogen storage dse - Debranching enzyme def - accumulation of branched polysaccharide

Answer 34

Cori's dse

Question 35

Glycogen storage dse - Branching enzyme def - accumulation of polysaccharide with few branch points

Answer 35

Anderson's

Question 36

Glycogen storage dse - Muscle phosphorylase def - Poor exercise tolerance - Accumulation of muscle glycogen

Answer 36

McArdle's disease

Question 37

Glycogen storage dse - Liver phosphorylase def - accumulation of liver glycogen - Glycogenolysis is impaired but gluco-neo-genesis is functional --> mild hypo-glycemia

Answer 37

Her's disease

Question 38

Conjugated or Unconjugated Biliruben: INC direct serum bilirubin (-) Urine urobilinogen (+) Urine bilirubin

Answer 38

Conjugated

Question 39

Conjugated or Unconjugated Biliruben: INC indirect serum bilirubin (+) Urine urobilinogen (-) Urine bilirubin

Answer 39

Unconjugated

Question 40

Conjugated or Unconjugated Biliruben: Gilbert

Answer 40

Unconjugated

Question 41

Conjugated or Unconjugated Biliruben: Obstructive Jaundice

Answer 41

Conjugated

Question 42

Conjugated or Unconjugated Biliruben: Dubin Johnson

Answer 42

Conjugated | NOTE: with Liver Hyperpigmentation (unlike Rotor syndrome)

Question 43

Conjugated or Unconjugated Biliruben: Rotor Syndrome

Answer 43

Conjugated | NOTE: No liver pigmentation

Question 44

In the well-fed state, insulin ________ glycogen synthase

Answer 44

Dephosphorylates NOTE during fasting, Glucagon will phosphorylate Glucose 6 phosphatase

Question 45

During fasting, Glucagon will phosphorylate _______________

Answer 45

Glucose 6 phosphatase NOTE During well fed state, insulin will dephosphorylate glycogen synthase.

Question 46

Acetyl Coa Carboxylase Propionyl carboxylase Pyruvate carboxylase Three requirements these enzymes need

Answer 46

ATP Bio Tin CO2