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TN Biochemistry > Clinical Biochemistry > Flashcards

Clinical Biochemistry Flashcards

1
Q

Organ most affected by MELAS

A

Brain (Most metabolically active)

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2
Q

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

A

Chronic Granulomatous disease

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3
Q 
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
A

TMP SMX

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4
Q

Enzyme Deficiency:

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

A

Fructokinase

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5
Q

Enzyme Deficiency:

Fructose intolerance, hypo-glycemia jaundice, vomiting

A

Aldolase B

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6
Q

Enzyme Deficiency:

Mild form of galactosemia with infantile cataracts

A

Galacto-kinase

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7
Q

Enzyme Deficiency:

Glactosemia + severe hepatomegaly + failure to thrive

A

Galactose 1 phosphate Uridyl-transferase

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8
Q

Enzyme Deficiency:

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

A

Sorbitol dehydrogenase

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9
Q

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

A

Lactose intolerance

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10
Q

Hyper-ammonemia depletes which TCA cycle intermediate

A

Alpha Keto-glutarate

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11
Q

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

A

Ornithine Trans-carbamylase deficiency

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12
Q

Musky body odor, fair skin, intellectual disability, seizures

A

Phenyl-keton-uria

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13
Q

Enzyme Deficiency:

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

A

Homogentisic oxidase deficiency

Alkaptonuria

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14
Q

Homocytinuria can be due to deficiency of what 2 enzymes

A

Cysta-thionine synthase

Homo-cysteine-methyl-transferase deficiency

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15
Q 
Osteoporosis
tall stature, 
kyphosis, 
lens subluxation (down and inward), 
atherosclerosis
A

Homo-cystinuria

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16
Q

Other amino acids involved in cystinuria

A

Cysteine Ornithine
Lysine
Arginine

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

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17
Q

Maple syrup urine disease has decreased breakdown of what amino acid

A

Iso-leucine
Leucine
Valine

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18
Q

Glucose 6 phosphatase deficiency is also known as

A

Von Gierke

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19
Q 
Enzyme Deficiency:
Pompe 
Cardio-myopathy
Early death 
Glycogen storage disease
A

Acid maltase deficiency

20
Q

MC Sphingo-lipid storage disease

Crumpled tissue paper appearance of lipd laden macrophages

A

Gauchers-Gluco-cerebro-sidase deficiency

21
Q

Hepatosplenomegaly, cherry red spot macula, foam cells

A

Niemann Pick Sphingo-mylinase deficiency

22
Q

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

A

Tay Sach’s
Hexosaminidase A deficiency –>

GM2 Ganglioside accumulation

23
Q

Lipo-protein-lipase deficiency INC serum chylomicrons

A

Type 1 Familial Hyper-lipo-protein-emia

24
Q

Defective LDL receptors familial

A

Type 2 A

25
Q

Familial Hyper-triglyceride-mia

A

Type 4

26
Q

Committed step of heme synthesis

A

ALA synthase

27
Q

Enzyme deficient in Severe combined immuno-deficiency

A

Adenosine Deaminase

28
Q

Hyper-uricemia is seen in which glycogen storage disease

A

Von Gierke

29
Q

Enzyme Deficiency

Hyper-uricemia, self-mutilation,

A

HGPT-tase deficiency

30
Q

Lesch nyhan invovles what pathway

A

Salvage pathway

31
Q

Ezyme inhibited by febuxostat and allopurinol

A

Xanthine oxidase

32
Q

Glycogen storage dse:

Severe hypo-glycemia because glucose is trapped in the hepatocyte and cannot be released into the blood

A

Glucose 5 phosphatase deficiency
“Von Glerke’s”
Glycogen Storage Disease

33
Q

Glycogen storage dse

  • Associated w heart failure
  • Acid maltase def
A

Pompe’s

34
Q

Glycogen storage dse

  • Debranching enzyme def
  • accumulation of branched polysaccharide
A

Cori’s dse

35
Q

Glycogen storage dse

  • Branching enzyme def
  • accumulation of polysaccharide with few branch points
A

Anderson’s

36
Q

Glycogen storage dse

  • Muscle phosphorylase def
  • Poor exercise tolerance
  • Accumulation of muscle glycogen
A

McArdle’s disease

37
Q

Glycogen storage dse

  • Liver phosphorylase def
  • accumulation of liver glycogen
  • Glycogenolysis is impaired but gluco-neo-genesis is functional –> mild hypo-glycemia
A

Her’s disease

38
Q

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

A

Conjugated

39
Q

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

A

Unconjugated

40
Q

Conjugated or Unconjugated Biliruben: Gilbert

A

Unconjugated

41
Q

Conjugated or Unconjugated Biliruben: Obstructive Jaundice

A

Conjugated

42
Q

Conjugated or Unconjugated Biliruben: Dubin Johnson

A

Conjugated

NOTE: with Liver Hyperpigmentation (unlike Rotor syndrome)

43
Q

Conjugated or Unconjugated Biliruben: Rotor Syndrome

A

Conjugated

NOTE: No liver pigmentation

44
Q

In the well-fed state, insulin ________ glycogen synthase

A

Dephosphorylates

NOTE during fasting, Glucagon will phosphorylate Glucose 6 phosphatase

45
Q

During fasting, Glucagon will phosphorylate _______________

A

Glucose 6 phosphatase

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

46
Q

Acetyl Coa Carboxylase
Propionyl carboxylase
Pyruvate carboxylase

Three requirements these enzymes need

A

ATP
Bio Tin
CO2

TN Biochemistry (9 decks)

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