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

9. Metabolic Disorders Flashcards

(91 cards)

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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
can be metabolic products of tyrosine
melanin thyroxine epinephrine tyrosine sulfate
26
2 types of melanuria
malignant melanoma albinism
27
black urine
melanuria alkaptonuria (after standing at room temp)
28
black stained cloth diapers, red stained disposable diapers
alkaptonuria
29
arthritis with brown pigment deposits, especially ears
alkaptonuria
30
lack of homogentisic acid oxidase
alkaptonuria
31
tests for alkaptonuria
ferric chloride clinitest add alkali to fresh urine chromatography silver nitrate
32
present with ketonuria in the newborn
branched chain amino acid disorders
33
lack of enzyme needed to decarboxylate 3 keto acids
MSUD
34
MSUD causes ----- and ----- to accumulate in blood/urine
branched chain AAs corresponding keto acids
35
failure to thrive after 1 week must be detected by 11th day
MSUD
36
ketones +, glucose =
MSUD
37
without tx, MSUD leads to...
brain damage death w/i months
38
test for MSUD
2,4-dinitrophenylhydrazine (DNPH) test
39
yellow turbidity/precipitate test
MSUD
40
3 organic acidemias
- isovaleric acidemia - propionic acidemia - methylmalonic acidemia
41
sweaty feet odor
isovaleric acidemia
42
lack of isovareyl coA, leading to accumulation of isovalerylglycine
isovaleric acidemia
43
normal tryptophan pathway
tryptophan --> indole --> feces
44
argentaffin cell carcinoma ↑↑serotonin
5-hydroxyindoleacetic acid
45
affects intestinal absorption and tubular reabsorption; generalized aminoaciduria
Hartnup disease
46
causes of indicanuria
obstruction abnormal bacteria malabsorption Hartnup disease
47
abnormal tryptophan pathway
tryptophan --> indole --> indican --> urine (indigo blue)
48
blue diaper syndrome
indicanuria/Hartnup
49
Pellagra rash
indicanuria
50
dietary supplement for those with Hartnup
niacin
51
indicanuria test
acidic ferric chloride test
52
tests for 5-HIAA
nitrous acid + 1-nitroso-2-naphthol test plasma test
53
5-HIAA test false positives
bananas, pineapples, tomatoes (serotonin)
54
inability to reabsorb cystine
cystinuria
55
COAL in urine rules out...
IEM
56
renal calculi in children
COAL cystinuria
57
sulfur smell
cystinuria, cystinosis
58
cyanide-nitroprusside test
for cystine disorders
59
defect in lysosomal membrane prevents release of...
cystine cystinosis
60
cystinosis deposits build up where?
cornea bone marrow lymph nodes internal organs
61
3 types of cystinosis
- infantile (nephropathic) - late onset (nephropathic) - nonnephropathic
62
cystine-depleting medications
cystinosis
63
defect in metabolism of methionine
homocystinuria
64
failure to thrive, cataracts, thromboembolism
homocystinuria
65
test for homocystinuria
cyanine-nitroprusside silver-nitroprusside (specific)
66
-------- forms of porphyrins are dark red/purple and fluoresce
oxidative
67
porphyrins from most to least water soluble
- porphobilinogen; ALA; uroporphyrin (urine) - coproporphyrin (urine, feces) - protoporphyrin (feces)
68
disorders of porphyrin metabolism
porphyrias
69
2 types of porphyria symptoms
neurological photosensitivity
70
burning sensation with exposure to light
porphyria
71
lead poisoning
porphyrias
72
tests for porphyrias
Ehrlich test (Watson Schwartz, Hoesch) UV light fecal/bile analysis **blood (CDC recommended)**
73
# porphyrias photosensitivity only (3)
cutanea tarda congenital erythropoietic erythropoietic
74
# porphyrias neurological sx only (2)
acute intermittent lead poisoning
75
# porphyrias both neurologic and photosensitivity (1)
variegate
76
compounds located in connective tissue
mucopolysaccharides
77
accumulation of incomplete portions of large compounds
mucopolysaccharide disorders
78
abnormal skeletal structure, accumulation in cornea
Hurler syndrome
79
abnormal skeletal structure, usually in males
Hunter syndrome
80
bone marrow transplant gene replacement
mucopolysaccharide disorders
81
tests for mucopolysaccharide disorders
acid-albumin turbidity CTAB test metachromatic staining
82
mostly in males sex linked recessive
Hunter syndrome Lesch-Nyhan disease
83
lack of hypoxanthine guanine
lesch-nyhan disease
84
cannot break down uric acid mass excretion in urine sandy diaper
lesch-nyhan disease
85
self-destruction
lesch-nyhan disease
86
melituria
increased urinary sugar
87
excessive ingestion of fruits
pentosuria
88
lack L-xylulose reductase
pentosuria
89
3 enzyme deficiencies causing galactosuria
Galactose-1-phosphate uridyl transferase (GALT) Galactokinase UDP-galactose-4-epimerase
90
cataracts in adulthood
galactokinase deficiency
91
mis-dx of DM
fructosuria

Mercy CLS 3: Urinalysis (10 decks)

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