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ANURBF > SCREENING FOR METABOLIC DISORDER > Flashcards

SCREENING FOR METABOLIC DISORDER Flashcards

1
Q

Urine may contain additional abnormal substances not tested
by routine urinalysis - can be detected or monitored by additional
abnormal screening tests that can also be performed in
urinalysis laboratory.

A

SCREENING FOR METABOLIC DISORDER

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2
Q

METABOLIC DISORDERS CAUSES

A

Overflow
Renal
Inborn error of metabolism

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3
Q

Result from disruption of a normal metabolic pathway
that causes increased plasma concentrations of amino
acids (non-metabolize substances) that either override
the reabsorption ability of the renal tubules or are
not normally reabsorbed from the filtrates

A

OVERFLOW

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4
Q

Due to defective tubular reabsorption of amino acids

A

RENAL

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5
Q

Failure to inherit a gene that codes for a particular
enzyme

A

INBORN ERROR OF METABOLISM (IEM)

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6
Q

Testing for many substances is now performed using
Tandem Mass Spectrophotometry (MS/MS)

A

INBORN ERROR OF METABOLISM (IEM)

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7
Q

It is
capable of screening infant blood sample for specific
substances associated with particular IEMs

A

Tandem Mass Spectrophotometry (MS/MS

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8
Q

Newborn Screening Tests

A

o Phenylketonuria
o MSUD
o Isovaleric Acidemia
o Cystinuria
o Cystinosis
o Homo-cystinuria
o Congenital hypothyroidism
o Congenital hyperplasia
o Galactosemia
o G6PD

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9
Q

Homogentisic
acid color

A

Black

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10
Q

Melanin color

A

Black

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11
Q

Indican color

A

Dark or bluish color

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12
Q

Porphyrins color

A

(pink
to reddish-brown
or purple)

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13
Q

Phenylketonuria odor

A

mousy
odor

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14
Q

Maple syrup
urine disease

A

(sweet or syrup or
burnt sugar

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15
Q

Isovaleric
acidemia

A

(sweaty
feet

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16
Q

Cystinuria
Cystinosis
Homocystinuria
Odor

A

(rotten
egg order)

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17
Q

What are the crystals produce in ABNORMAL METABOLIC CONSTITUENTS OR
CONDITIONS DETECTED IN THE ROUTINE URINALYSIS

A

Cystine
Leucine
Tyrosine
Lesch-Nyhan disorder

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18
Q

Most well-known aminoaciduria that can lead to
mental retardation

A

PHENYLKETONURIA (PKU)

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19
Q

(-) gene that codes for Phenylalanine Hydroxylase

A

PHENYLKETONURIA (PKU)

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20
Q

PKU is (-) gene that codes for _____

A

Phenylalanine Hydroxylase

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21
Q

Screening Tests for PKU

A

FeCl3 tube test = (+) blue-green color
o Phenistix strip = (+) gray to gray-green color

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22
Q

Positive result for FeCl3 tube test in PKU

A

(+) blue-green color

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23
Q

Positive result for phenistox strip in PKU

A

(+) gray to gray-green color

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24
Q
  • Most well-known test for PKU
    • Obtain a blood sample from the heel-stick and placed
    on filter paper disks and placed in culture media
A

GUTHRIE BACTERIAL INHIBITION TEST (GUTHRIE’S
MICROBIAL INHIBITION ASSAY)

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25
Q

B.subtilis is cultured with ____

A

Beta-2-thienylalanine (TE)

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26
Q

B2-TE inhibits the growth of

A

B.subtilis

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27
Q

It counteracts the action of B2-TE

A

Phenylalanine

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28
Q

accumulation of excess tyrosine in the plasma
(tyrosinemia) producing urinary overflow

A

TYROSYLURIA

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29
Q

TYROSYLURIA is (-) for a gene that decodes for:

A

o Type 1: Fumarylacetoacetate hydrolase
(FAH)
o Type 2: Tyrosine aminotransferase
o Type 3: p-hydroxyphenylpyruvic acid
dioxygenase

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30
Q

May also be seen in patients with severe liver disease
(will produce tyrosine and leucine crystals)

A

TYROSYLURIA

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31
Q

TYROSYLURIA urine odor

A

“Rancid butter” odor

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32
Q

Screening and confirmatory test for tyrosyluria

A

Screening: Nitrosonaphthanol
• Confirmatory: Chromatography

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33
Q

• Deficiency in homogentisic acid oxidase
• Increased homogentisic acid
• Produces brown pigment deposits in body tissues that
can lead to arthritis, and liver and cardiac problems.

A

ALKAPTONURIA

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34
Q

ALKAPTONURIA screening tests

A

• Screening Test
o Ferric chloride tube test
o Benedict’s test
o Alklinization of fresh urine

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35
Q

Increased urinary melanin that produces a darkening
of urine
• Indicates malignant melanoma

A

MELANURIA

36
Q

Screening test for MELANURIA

A

• Screening:
o FeCl3 tube test
o Sodium nitroprusside test
o Ehrlich test

37
Q

This differ from other
amino acids by having a methyl (-CH3) group that
branches from the main aliphatic carbon chain

A

BRANCHED-CHAIN AMINOACIDURIAS

38
Q

Two major groups of BRANCHED-CHAIN AMINOACIDURIAS

A
  1. Accumulation of one or more of the early
    amino acid degradation products (ex: MSUD)
  2. Accumulation of organic acids produced
    further down in the amino acid metabolic
    pathway - Organic acidemias (isovaleric,
    propionic, methylmalonic)
39
Q

Clinical findings of BRANCHED-CHAIN AMINOACIDURIAS

A

Ketonuria

40
Q

Most common IEM in the Philippines

A

MAPLE SYRUP URINE DISEASE

41
Q

MAPLE SYRUP URINE DISEASE (-) Gene that encodes for the enzyme for metabolism
of the ketoacids of ______

A

Leucine, Isoleucine and Valine

42
Q

• Causes severe mental retardation, convulsions,
acidosis, and hypoglycemia if untreated
• Death occurs during first year

A

MAPLE SYRUP URINE DISEASE

43
Q

Screening test for MAPLE SYRUP URINE DISEASE

A

o 2,4-dinitrophenylhydrazine
o FeCl3 tube test

44
Q

• Generalized symptoms
o early severe illness, often with vomiting
accompanied by metabolic acidosis;
hypoglycemia; ketonuria; and increased
serum ammonia

A

ORGANIC ACIDEMIAS

45
Q

Most commonly encounted disorders in ORGANIC ACIDEMIAS

A

o Isovaleric acidemia - “sweaty feet” urine
odor
o Propionic acidemia
o Methylmalonic acidemia - detected using pnitroaniline
test

46
Q

“sweaty feet” urine
odor

A

Isovaleric acidemia

47
Q

detected using pnitroaniline
test

A

Methylmalonic acidemia

48
Q

increased urinary excretion of the metabolites indican
and 5-hydroxyindoleacetic acid

A

TRYPTOPHAN AMINOACIDURIA

49
Q

TRYPTOPHAN AMINOACIDURIA usually seen in cases of _____

A

argentaffinoma

50
Q

a metabolite in serotonin)

A

5-hydroxyindoleacetic acid

51
Q

increased amounts of tryptophan are converted to
indole

Seen in intestinal disorders:
o Obstruction
o Presence of abnormal bacteria
o Hartnup disease = Blue diaper syndrome

A

INDICANURIA

52
Q

INDICANURIA screening test

A

Obermayer’s test

53
Q

INDICANURIA urine color

A

Indigo blue

54
Q

• Degradation product of serotonin (Serotonin is
produced from tryptophan by argentaffin cells in the
intestines)
• Argentaffin cell tumors

A

5-HYDROXYINDOLEACETIC ACID

55
Q

Screening test for 5-HYDROXYINDOLEACETIC ACID

A

o FeCl3 tube test
o Nitrosonaphthol with nitrous acid

56
Q

Patient prep for 5-HYDROXYINDOLEACETIC ACID

A

Avoid eating foods rich in serotonin

57
Q

A condition marked by elevated amounts of the amino
acid cystine in the urine

A

CYSTINURIA

58
Q

Due to inability of the renal tubules to reabsorb cystine
filtered by the glomerulus

A

CYSTINURIA

59
Q

CYSTINURIA Defective reabsorption:

A

Cystine, Ornithine, Lysine,
and Arginine

60
Q

It is Sulfur odor urine

A

CYSTINURIA

61
Q

(-) gene that codes for an enzyme responsible from
cystine metabolism

A

CYSTINOSIS

61
Q

Cystine deposits in many areas of the body, what are they?

A

BM, cornea, lymph nodes and internal organs)

61
Q

(-) gene that codes for the enzyme cystathione beta-
synthase

A

HOMOCYSTINURIA

61
Q

TESTS FOR CYSTINURIA AND CYSTINOSIS

A

-Brand’s Modification of Legal’s nitroprusside test
-Thin layer or Ion-exchange chromatography
-High-voltage electrophoresis

62
Q

Brand’s Modification of Legal’s nitroprusside test reagent?

A

Cyanide nitroprusside

62
Q

Seen in Lead Poisoning

A

PORPHYRIN DISORDERS

62
Q

What is the gene that decode for, for the disorder:
-Acute intermittent porphyria

A

Uroporphyrinogen synthase

63
Q

Defect in the metabolism of the amino acid
methionine (leads to increased homocystine)

A

HOMOCYSTINURIA

63
Q

HOMOCYSTINURIA is detected by?

A

silver-nitroprusside test

64
Q

CDC recommends analysis of (___________) for
the presence of free-erythrocyte protoporphyrin as a screening test for lead poisoning

A

whole blood

65
Q

What is the gene that decode for, for the disorder:
- ALA hydratase def porphyria

A

ALA synthase

66
Q

What is the gene that decode for, for the disorder:
- congenital erythropoietic porphyria

A

Uroporphyrinogen
cosynthase

67
Q

What is the gene that decode for, for the disorder:
-Porphyria cutanea tarda

A

Uroporphyrinogen
decarboxylase

67
Q

What is the gene that decode for, for the disorder:
-Hereditary coproporphyria

A

Coproporphyrinogen oxidase

68
Q

What is the gene that decode for, for the disorder:
-Variegate porphyria

A

Protoporphyrinogen oxidase

69
Q

Screening Tests specimen used?

A

urine, blood, stool

70
Q

Detects d-ALA and porphobilinogen

A

Ehrlich’s reaction

70
Q

Test for uroporphyrin, coproporphyrin,
and protoporphyrin: violet/ pink/red

A

Fluorescence at
550-600nm

71
Q

Accumulation of incompletely metabolized polysaccharide
portions in the lysosome

A

Mucopolysaccharide Disorders

71
Q

CDC-recommended test for lead poisoning

A

FEP

72
Q

mucopolysaccharides accumulate in the cornea;
skeletal structure abnormality and severe mental retardation

A

HURLER

73
Q

skeletal structure abnormality and severe mental
retardation

A

HUNTER

74
Q

mental retardation only

A

SANFILIPO

75
Q

cetylmethylammonium bromide test = white turbidity

A

CETYLTRIMETHYLAMMONIUM BROMIDE TEST (CTAB)

76
Q

massive excretion of uric acid crystals
in the urine caused by the failure to inherit the gene to
produce
hypoxantine
guanine
phosphoribosyltransferase; “orange sand” in diaper

A

Lesch-Nyhan Disease

77
Q

It is purine disease

A

Lesch-Nyhan Disease

ANURBF (4 decks)

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