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Mercy CLS 3: Urinalysis > 9. Metabolic Disorders > Flashcards

9. Metabolic Disorders Flashcards

1
Q

phenylalanine-tyrosine disorders (4)

A

Phenylketonuria
Tyrosyluria
Melanuria
Alkaptonuria

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2
Q

branched chain amino acid disorders

A

Maple syrup urine disease
Organic acidemias

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3
Q

tryptophan disorders

A

Indicanuria
5-HIAA

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4
Q

cystine disorders

A

Cystinuria
Cystinosis
Homocystinuria

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5
Q

mucopolysaccharide disorders

A

Hurler syndrome
Hunter syndrome
Sanfilippo syndrome

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6
Q

purine disorder

A

Lesch-Nyhan disease

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7
Q

carbohydrate disorders

A

Pentosuria
Galactosuria
Lactosuria
Fructosuria

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8
Q

2 types of disorders causing abnormal metabolic substances in urine

A

overflow
renal

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9
Q

2 renal metabolic disorders

A

Hartnup disease
cystinuria

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10
Q

state-mandated method used to screen newborns for metabolic disorders

A

tandem mass spectrophotometry (MS/MS)

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11
Q

primary vs secondary aminoacidurias

A

primary: enzyme defect in AA pathway
secondary: renal tubule transport defect

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12
Q

1 out of 10,000 to 20,000 births

A

PKU

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13
Q

failure to inherit gene for phenylalanine hydroxylase

function of enzyme

A

PKU

phenylalanine –> tyrosine

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14
Q

mousy odor

A

PKU

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15
Q

↓ skin pigmentation

A

PKU (tyrosine not available for conversion to melanin)
albinism

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16
Q

PKU dietary restrictions

A

phenylalanine (milk)
aspartame

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17
Q

2 tests for PKU

A

ferric chloride test (monitors dietary control)
phenylpyruvic acid test

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18
Q

tyrosine or leucine crystals

A

tyrosyluria

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19
Q

underdevelopment of liver function needed to make enzymes necessary for complete metabolism

A

tyrosyluria

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20
Q

lack of fumarylacetoacetate acid hydrolase

A

tyrosyluria type 1

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21
Q

lack of tyrosine aminotransferase

A

tyrosyluria type 2

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22
Q

erosion and lesions of palms, fingers, soles

A

tyrosyluria type 2

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23
Q

lack of ρ-hydroxyphenylpyruvic acid dioxygenase

A

tyrosyluria type 3

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24
Q

test for tyrosyluria

A

nitroso-naphthol test

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25
Q

can be metabolic products of tyrosine

A

melanin
thyroxine
epinephrine
tyrosine sulfate

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26
Q

2 types of melanuria

A

malignant melanoma
albinism

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27
Q

black urine

A

melanuria
alkaptonuria (after standing at room temp)

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28
Q

black stained cloth diapers, red stained disposable diapers

A

alkaptonuria

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29
Q

arthritis with brown pigment deposits, especially ears

A

alkaptonuria

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30
Q

lack of homogentisic acid oxidase

A

alkaptonuria

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31
Q

tests for alkaptonuria

A

ferric chloride
clinitest
add alkali to fresh urine
chromatography
silver nitrate

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32
Q

present with ketonuria in the newborn

A

branched chain amino acid disorders

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33
Q

lack of enzyme needed to decarboxylate 3 keto acids

A

MSUD

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34
Q

MSUD causes —– and —– to accumulate in blood/urine

A

branched chain AAs
corresponding keto acids

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35
Q

failure to thrive after 1 week
must be detected by 11th day

A

MSUD

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36
Q

ketones +, glucose =

A

MSUD

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37
Q

without tx, MSUD leads to…

A

brain damage
death w/i months

38
Q

test for MSUD

A

2,4-dinitrophenylhydrazine (DNPH) test

39
Q

yellow turbidity/precipitate test

40
Q

3 organic acidemias

A
  • isovaleric acidemia
  • propionic acidemia
  • methylmalonic acidemia
41
Q

sweaty feet odor

A

isovaleric acidemia

42
Q

lack of isovareyl coA, leading to accumulation of isovalerylglycine

A

isovaleric acidemia

43
Q

normal tryptophan pathway

A

tryptophan –> indole –> feces

44
Q

argentaffin cell carcinoma
↑↑serotonin

A

5-hydroxyindoleacetic acid

45
Q

affects intestinal absorption and tubular reabsorption; generalized aminoaciduria

A

Hartnup disease

46
Q

causes of indicanuria

A

obstruction
abnormal bacteria
malabsorption
Hartnup disease

47
Q

abnormal tryptophan pathway

A

tryptophan –> indole –> indican –> urine (indigo blue)

48
Q

blue diaper syndrome

A

indicanuria/Hartnup

49
Q

Pellagra rash

A

indicanuria

50
Q

dietary supplement for those with Hartnup

51
Q

indicanuria test

A

acidic ferric chloride test

52
Q

tests for 5-HIAA

A

nitrous acid + 1-nitroso-2-naphthol test
plasma test

53
Q

5-HIAA test false positives

A

bananas, pineapples, tomatoes (serotonin)

54
Q

inability to reabsorb cystine

A

cystinuria

55
Q

COAL in urine rules out…

56
Q

renal calculi in children

A

COAL
cystinuria

57
Q

sulfur smell

A

cystinuria, cystinosis

58
Q

cyanide-nitroprusside test

A

for cystine disorders

59
Q

defect in lysosomal membrane prevents release of…

A

cystine
cystinosis

60
Q

cystinosis deposits build up where?

A

cornea
bone marrow
lymph nodes
internal organs

61
Q

3 types of cystinosis

A
  • infantile (nephropathic)
  • late onset (nephropathic)
  • nonnephropathic
62
Q

cystine-depleting medications

A

cystinosis

63
Q

defect in metabolism of methionine

A

homocystinuria

64
Q

failure to thrive, cataracts, thromboembolism

A

homocystinuria

65
Q

test for homocystinuria

A

cyanine-nitroprusside
silver-nitroprusside (specific)

66
Q

——– forms of porphyrins are dark red/purple and fluoresce

67
Q

porphyrins from most to least water soluble

A
  • porphobilinogen; ALA; uroporphyrin (urine)
  • coproporphyrin (urine, feces)
  • protoporphyrin (feces)
68
Q

disorders of porphyrin metabolism

A

porphyrias

69
Q

2 types of porphyria symptoms

A

neurological
photosensitivity

70
Q

burning sensation with exposure to light

71
Q

lead poisoning

A

porphyrias

72
Q

tests for porphyrias

A

Ehrlich test (Watson Schwartz, Hoesch)
UV light
fecal/bile analysis
blood (CDC recommended)

73
Q

porphyrias

photosensitivity only (3)

A

cutanea tarda
congenital erythropoietic
erythropoietic

74
Q

porphyrias

neurological sx only (2)

A

acute intermittent
lead poisoning

75
Q

porphyrias

both neurologic and photosensitivity (1)

76
Q

compounds located in connective tissue

A

mucopolysaccharides

77
Q

accumulation of incomplete portions of large compounds

A

mucopolysaccharide disorders

78
Q

abnormal skeletal structure, accumulation in cornea

A

Hurler syndrome

79
Q

abnormal skeletal structure, usually in males

A

Hunter syndrome

80
Q

bone marrow transplant
gene replacement

A

mucopolysaccharide disorders

81
Q

tests for mucopolysaccharide disorders

A

acid-albumin turbidity
CTAB test
metachromatic staining

82
Q

mostly in males
sex linked recessive

A

Hunter syndrome
Lesch-Nyhan disease

83
Q

lack of hypoxanthine guanine

A

lesch-nyhan disease

84
Q

cannot break down uric acid
mass excretion in urine
sandy diaper

A

lesch-nyhan disease

85
Q

self-destruction

A

lesch-nyhan disease

86
Q

melituria

A

increased urinary sugar

87
Q

excessive ingestion of fruits

A

pentosuria

88
Q

lack L-xylulose reductase

A

pentosuria

89
Q

3 enzyme deficiencies causing galactosuria

A

Galactose-1-phosphate uridyl transferase (GALT)
Galactokinase
UDP-galactose-4-epimerase

90
Q

cataracts in adulthood

A

galactokinase deficiency

91
Q

mis-dx of DM

A

fructosuria

Mercy CLS 3: Urinalysis (10 decks)

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