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CLINICAL MICROSCOPY > Metabolic Disorders > Flashcards

Metabolic Disorders Flashcards

1
Q

Phenylalanine-Tyrosine Disorders

Failure to inherit a gene that produces Phenylalanine hydrolxyase

A

Phenylketonuria

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2
Q

Test for Phenylketonuria

A

Gutherie Test (Bacterial Inhibition)
FeCI3 (Blue-green)

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3
Q

In every 10, 000 to 20, 000 birth, there is _ case of PKU

A

1

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4
Q

Clinical significance of PKU

A

Mental retardation if left untreated
Fair-skin complexion (lack of tyrosine)

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5
Q

Phenylalanine-Tyrosine Disorders

Disorder that has a:

FeCI3 - Transient GREEN
Nitroso-napthol - Orange Red

A

Tyrosyluria

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6
Q

Phenylalanine-Tyrosine Disorders

Failure of the gene to produce enzyme homogentisic acid

A

Alkaptonuria

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7
Q

Phenylalanine-Tyrosine Disorders

FeCI3 = Transient Blue
Benedicts/Clinitest = Yellow precipitate

A

Alkaptonuria

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8
Q

Phenylalanine-Tyrosine Disorders

Overproliferation of melanocytes

A

Melanuria

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9
Q

Phenylalanine-Tyrosine Disorders

FeCI3 = Gray or Black precipitate
Sodium nitroprusside = Red
Ehrlich = Red

A

Melanuria

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10
Q

Branched-chain Amino Acid Disorders (2)

A

Maple Syrup Disease
Organic Acidemias

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11
Q

Branched-chain Amino Acid Disorders

Accumulation of Leucine, Isoleucine, and Valine (ILV) in blood and urine

A

Maple Syrup Disease

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12
Q

Branched-chain Amino Acid Disorders

Test to determine MSU uses

A

2-4 DNPH (Dinitrophenylhydrazine) = YELLOW TURBIDITY/PRECIPITATE

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13
Q

Branched-chain Amino Acid Disorders

Symptoms include early server illness
- VOMITING
- Hypoglysemia
- Ketonuria
- Increased serum ammonia
- metabolic acidosis

A

Organic Acidemias

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14
Q

Branched-chain Amino Acid Disorders

Organic Acidemias is usually associated in

A

Isovaleric, Proprionic, and Methylmalonic acidemias

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15
Q

Tryptophan Disorders (2)

A

Indicanuria
Argentaffinoma

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16
Q

Tryptophan Disorders

Associated with Intestinal Disorder
Hartnup Disease

A

Indicanuria

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17
Q

Tryptophan Disorders

Presence of Blue urine

A

Indicanuria

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18
Q

Tryptophan Disorders

Test for Indicanuria

A

FeCI3 = Purple with CHLOROFORM

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19
Q

Tryptophan Disorders

Condition also known as Blue Diaper Syndrome

A

Indicanuria

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20
Q

Tryptophan Disorders

Increase in 5-HIAA (HydroxyIndoleAcetic Acid)

A

Argentaffinoma

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21
Q

Metabolite of Serotonin

A

5-HIAA

22
Q

Tryptophan Disorders

Serotonin is produced by _____

A

TRYTOPHAN of Argentaffin Cells

23
Q

Tryptophan Disorders

Serotonin is spread throughout the body by

A

Platelets

24
Q

Tryptophan Disorders

In cases of __________ there’s an excessive production of Serotonin = Increased 5 HIAA excretion in urine

A

Carcinoid Tumors

25
Q

Tryptophan Disorders

Argentaffinoma
FeCI3 =
Nitroso-Napthol =

A

FeCI3 = Blue-green
Nitroso-Napthol = Purple with NITRIC ACID

26
Q

Cystine Disorders (3)

A

Cystinuria
Cystinosis
Homocystinuria

27
Q

Cystine Disorders

Cystine deposits in BM, cornea, lymph nodes, and internal organs

A

Cystinosis

28
Q

Cystine Disorders

Cytinosis
Cyanide Nitroprusside =

A

red-purple

29
Q

Cystine Disorders

Defects in metabolism of Methionine

A

Homocystinuria

30
Q

Cystine Disorders

Homocystinuria clinical significance

A

Mental Retardation
Cataracts

31
Q

Cystine Disorders

Homocystinuria
Silver Nitroprusside =

A

red-purple

32
Q

Accumulation of incompletely metabolized polysaccharide on the lysosome of the the connective tissue cells

A

Mucopolysachharide Disorders

33
Q

Hurler’s , Hunter’s Sanflippo’s Syndrome is a

A

Mucopolysaccharide Disorders

34
Q

Products mostly found in the urine of patient with Mucopolysaccharide Disorder

A

Heparan sulfate
Keratan sulfate
Dermatan sulfate

35
Q

Test used to diagnose Hurler’s, Hunter’s, Sanflippo’s Syndrome are

a. Acid-albumin =
b. Cetyltrimethyammonium Bromide (CTAB) =
C. Metachromatic staining =

A

a. Acid-albumin = white turbidity
b. Cetyltrimethyammonium Bromide (CTAB) = white turbidity
C. Metachromatic staining = Azure A in acetic Acid ; MPS Paper = Blue spot

36
Q

Purine Disorders

massive excretion of URIC ACID CRYSTALS

A

Lesch-Nyhan Syndrome

37
Q

Purine Disorders

Lesch-Nyhan Syndrome is characterized by

A

Severe motor defect
Gout
Renal Calculi

38
Q

Purine Disorders

In Lesch-Nyhan Syndrome there is a failure of gene to produce

A

Hypoxanthine guanine phosphoribosyltransferase

39
Q

Purine Disorders

Orange-sand in diapers

A

Lesch-Nyhan Syndrome

40
Q

Disorders of Porphyrin Metabolism

A

Porphyrias

41
Q

Can be inherited or acquired through erythocytic or hepatic malfunctions or toxic agents

A

Porphyrias

42
Q

Can be used only to detect for ALA and PHORPHOBILINOGEN

A

Ehrlich Reaction

43
Q

Used to convert ALA to Phorphobilinogen prior to ehrlich reaction

A

Acetyl Acetone

44
Q

May be used for other Porphyrins

A

Fluorescence under UV Light in the 550 - 600 nm range

45
Q

Mousy Odor

A

PKU

46
Q

Blue urine

A

Indicanuria

47
Q

Sulfur Odor

A

Cystinnuria

48
Q

Black color

A

Alkaptonuria

49
Q

Orange-sand diaper

A

Lesch-Nyhan Syndrome

50
Q
A

CLINICAL MICROSCOPY (24 decks)

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