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AUBF > URINE METABOLIC DISORDERS (Branched Chain Amino Acid, Trypthopan, Cystine Disorders) > Flashcards

URINE METABOLIC DISORDERS (Branched Chain Amino Acid, Trypthopan, Cystine Disorders) Flashcards

1
Q

What is the most common IEM in the Philippines, characterized by the absence of branched-chain a-keto acid dehydrogenase (BCKD)?

A

MSUD

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2
Q

What ketoacids are increased in MSUD?

A

Leucine, Isoleucine, Valine

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3
Q

What is the urine odor associated with MSUD?

A

Caramelized sugar, Maple syrup, Curry

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4
Q

What is sensitive and specific for MSUD?

A

Alloisoleucine > 5 umol/L

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5
Q

What is the positive result for the screening test 2,4-dinitrophenylhydrazine (DNPH) for MSUD?

A

Yellow turbidity/precipitate

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6
Q

What is the confirmatory test for MSUD?

A

Plasma amino acid testing, Molecular tests

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7
Q

What odor is associated with isovaleric acidemia?

A

Sweaty feet

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8
Q

What substance causes the odor in isovaleric acidemia?

A

Isovalerylglycine

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9
Q

What test detects methylmalonic acidemia?

A

p-Nitroaniline test

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10
Q

What is the positive color for methylmalonic acidemia in the p-nitroaniline test?

A

Emerald green

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11
Q

What disorders are associated with tryptophan metabolism?

A

Indicanuria, Argentaffinoma

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12
Q

What is the urine color after air exposure in indicanuria?

A

Indigo blue

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13
Q

What conditions are commonly associated with indicanuria?

A

Hartnup disease, Intestinal disorders

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14
Q

What is the positive result for Obermayer’s test for indicanuria?

A

Violet color

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15
Q

What tumor produces serotonin that is metabolized into 5-HIAA?

A

Argentaffinoma

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16
Q

What is the positive result for the FeCl3 screening test for argentaffinoma?

A

Blue-green

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17
Q

What foods should be avoided 3 days prior to argentaffinoma screening?

A

Bananas, Pineapples, Tomatoes, Chocolates, Walnuts, Plums, Avocados, Kiwi, Eggplants

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18
Q

What medications should be avoided 3 days prior to argentaffinoma screening?

A

Phenothiazines, Acetanilides

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19
Q

What is the urine odor in cystine disorders?

A

Sulfur

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20
Q

What is the renal type of aminoaciduria called?

A

Cystinuria

21
Q

What amino acids have defective reabsorption in cystinuria (COLA)?

A

Cystine, Ornithine, Lysine, Arginine

22
Q

What is the positive result for Brand’s modification of Legal’s nitroprusside test for cystinuria?

A

Red-purple color

23
Q

What reagent is used in Brand’s modification of Legal’s nitroprusside test?

A

Cyanide nitroprusside

24
Q

What is cystinosis?

A

An inborn error of metabolism characterized by absence of an enzyme for cystine metabolism

25
Q

What are the types of cystinosis?

A

Nephropathic cystinosis, Intermediate cystinosis, Ocular cystinosis

26
Q

Where are cystine deposits usually seen in cystinosis?

A

Bone marrow, Cornea, Lymph nodes, Internal organs

27
Q

What amino acid metabolism defect causes increased homocysteine?

A

Methionine

28
Q

What enzyme deficiency characterizes homocystinuria?

A

Cystathione B-synthase

29
Q

What test detects homocystinuria?

A

Silver nitroprusside test

30
Q

What is the positive color for homocystinuria in the silver nitroprusside test?

A

Red-purple

31
Q

What color does porphyrin disorders produce in urine?

A

Red/purple/burgundy

32
Q

What porphyria is associated with colorless urine in lead poisoning?

A

Colorless porphyria

33
Q

What screening test detects porphyrins D-ALA and PBG?

A

Ehrlich’s reaction

34
Q

What fluorescence range detects porphyrins?

A

550-600nm (Violet/Pink/Red fluorescence)

35
Q

What specimen types are used for detecting porphyria?

A

Urine, Stool, Blood, Bile

36
Q

What enzyme deficiency characterizes acute intermittent porphyria?

A

Uroporphyrinogen synthase

37
Q

What enzyme deficiency characterizes porphyria cutanea tarda?

A

Uroporphyrinogen decarboxylase

38
Q

What enzyme deficiency characterizes congenital erythropoietic porphyria?

A

Uroporphyrinogen cosynthase

39
Q

What enzyme deficiency characterizes variegate porphyria?

A

Protoporphyrinogen oxidase

40
Q

What enzyme deficiency characterizes erythropoietic protoporphyria?

A

Ferrochelatase

41
Q

What enzyme does lead poisoning inhibit in porphyria disorders?

A

ALA synthetase and ferrochelatase

42
Q

What compounds are increased in acute intermittent porphyria?

A

ALA, PBG

43
Q

What porphyrins are increased in porphyria cutanea tarda and congenital erythropoietic porphyria?

A

Uroporphyrin

44
Q

What porphyrins are increased in congenital erythropoietic porphyria and variegate porphyria?

A

Coproporphyrin

45
Q

What porphyrins are increased in erythropoietic protoporphyria and lead poisoning?

A

Protoporphyrin

46
Q

What porphyrins are increased in acute intermittent porphyria and lead poisoning?

A

ALA

47
Q

Photosensitivity is common in which porphyrias?

A

Porphyria cutanea tarda, Congenital erythropoietic porphyria, Variegate porphyria, Erythropoietic protoporphyria

48
Q

Neurologic symptoms are common in which porphyrias?

A

Lead poisoning, Variegate porphyria, Acute intermittent porphyria

49
Q

What is the treatment for cystine disorders?

A

D-penicillamine

AUBF (26 decks)

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