Metabolic Disorders Flashcards

(50 cards)

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

22
Q

Tryptophan Disorders

Serotonin is produced by _____

A

TRYTOPHAN of Argentaffin Cells

23
Q

Tryptophan Disorders

Serotonin is spread throughout the body by

24
Q

Tryptophan Disorders

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

A

Carcinoid Tumors

25
Tryptophan Disorders Argentaffinoma FeCI3 = Nitroso-Napthol =
FeCI3 = Blue-green Nitroso-Napthol = Purple with NITRIC ACID
26
Cystine Disorders (3)
Cystinuria Cystinosis Homocystinuria
27
Cystine Disorders Cystine deposits in BM, cornea, lymph nodes, and internal organs
Cystinosis
28
Cystine Disorders Cytinosis Cyanide Nitroprusside =
red-purple
29
Cystine Disorders Defects in metabolism of Methionine
Homocystinuria
30
Cystine Disorders Homocystinuria clinical significance
Mental Retardation Cataracts
31
Cystine Disorders Homocystinuria Silver Nitroprusside =
red-purple
32
Accumulation of incompletely metabolized polysaccharide on the lysosome of the the connective tissue cells
Mucopolysachharide Disorders
33
Hurler's , Hunter's Sanflippo's Syndrome is a
Mucopolysaccharide Disorders
34
Products mostly found in the urine of patient with Mucopolysaccharide Disorder
Heparan sulfate Keratan sulfate Dermatan sulfate
35
Test used to diagnose Hurler's, Hunter's, Sanflippo's Syndrome are a. Acid-albumin = b. Cetyltrimethyammonium Bromide (CTAB) = C. Metachromatic staining =
a. Acid-albumin = white turbidity b. Cetyltrimethyammonium Bromide (CTAB) = white turbidity C. Metachromatic staining = Azure A in acetic Acid ; MPS Paper = Blue spot
36
Purine Disorders massive excretion of URIC ACID CRYSTALS
Lesch-Nyhan Syndrome
37
Purine Disorders Lesch-Nyhan Syndrome is characterized by
Severe motor defect Gout Renal Calculi
38
Purine Disorders In Lesch-Nyhan Syndrome there is a failure of gene to produce
Hypoxanthine guanine phosphoribosyltransferase
39
Purine Disorders Orange-sand in diapers
Lesch-Nyhan Syndrome
40
Disorders of Porphyrin Metabolism
Porphyrias
41
Can be inherited or acquired through erythocytic or hepatic malfunctions or toxic agents
Porphyrias
42
Can be used only to detect for ALA and PHORPHOBILINOGEN
Ehrlich Reaction
43
Used to convert ALA to Phorphobilinogen prior to ehrlich reaction
Acetyl Acetone
44
May be used for other Porphyrins
Fluorescence under UV Light in the 550 - 600 nm range
45
Mousy Odor
PKU
46
Blue urine
Indicanuria
47
Sulfur Odor
Cystinnuria
48
Black color
Alkaptonuria
49
Orange-sand diaper
Lesch-Nyhan Syndrome
50