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UA exam 2 > Metabolic disorders > Flashcards

Metabolic disorders Flashcards

1
Q

Overflow vs renal disorders

A

Overflow: disruption of pathway. Inborn error of metabolism
Renal disorder: malfunction in tubular reabsorption mechanism

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2
Q

Abnormal metabolic constituents
Color

A

Homogentistic acid
Melanin
Indican
porphyrins

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3
Q

abnormal metabolic constituents
Odor

A

Phenylketonuria
MSUD
isovaleric academia
cystinuria
cystinosis
homocystinuria

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4
Q

Abnormal metabolic constituents
crystals

A

cystine
leucine
tyrosine
lesch-nyhan disease (uric acid)

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5
Q

Amino acid disorders

A

Phenylalanine Tyrosine disorders
Branch chain amino acid disorder
tryptophan disorders
cystine disorders

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6
Q

Phenylketonuria

A

Mousy odor urine
Increase keto acids in urine
can’t code for phenylalanine hydroxylase
Decrease in melanin

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7
Q

Phenylketonuria treatment

A

newborns/babies: specialized formula
No food with phenylalanine/aspartame
can alter diet slightly with age

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8
Q

Phenylketonuria blood testing

A

Blood is tested for phenylalanine
screen for PKU
Detectable after drinking milk for 24 hours
Guthrie test

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9
Q

Phenylalanine Urine testing

A

Follow up procedure
screening for known PKU to monitor
ferric chloride test: permanent blue-green color

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10
Q

Tyrosyluria

A

excess tyrosine
most common: transitory in premature infants
Insufficient liver development
or live doesn’t make enzymes

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11
Q

Tyrosyluria urine testing

A

tyrosine and leucine crystals (if liver disorder)
ferric chloride test (green fades rapidly)
Nitroso napthol: orange color, non-specific

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12
Q

Melanuria

A

Increased melanin -> dark urine
after exposure to air
overprolifertion of melanocytes

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13
Q

Melanuria condition

A

Malignant melanoma

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14
Q

Melanuria tests

A

Ferric chloride (grey or black precipitate)
Sodium nitroprusside (red color)
Ehrlich’s reagent (red color)

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15
Q

alkaptonuria

A

Alkali lover
darker after standing at room temp
homogenistic acid oxydase missing

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16
Q

alkaptonuria condition

A

Homogenistic acid accumulates
children: brown, black stained diapers
Adults: brown pigments in body tissues, arthritis

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17
Q

alkaptonuria testing

A

Ferric chloride (blue)
clinitest: yellow precipitate
Alkali additive to fresh urine -> dark color

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18
Q

Branch chained amino acid (BCAA)

A

Type 1: Accumulation Early break down products (MSUD)
Type 2: Organic acidemia (acids made further in pathway

19
Q

MSUD

A

Inborn error of metabolism
Inability to metabolize keto acids
Leucine, isoleucine, valine
keto acids accumulate in blood/urine

20
Q

MSUD condition

A

Failure to thrive 1 wk after birth
UA findings: sweet odor, ketone +
Testing: MS/MS, DNPH (yellow precip), AA chromotography

21
Q

Organic acidemias

A

Symptoms: ketonuria, increase serum ammonia
Disorders: isovaleric acidemia, propionic acidemia
Testing: no UA test

22
Q

Tryptophan disorders

A

Indican
5-HIAA

23
Q

Indicanuria

A

Increased tryptophan conversion to indole
Hartnup disease
indole converted to indican -> blood -> urine

24
Q

Indicanuria indications

A

Indican oxidizes to blue
Blue diaper syndrome

25
Q

Hartnup disease

A

Inherited metabolic disease
abnormalities in renal tubes (Fanconi’s)
dry red scaley rash
muscular incoordination

26
Q

Cystine disorders

A

Cystinuria: transport of amino acids
Cystinosis: error of metabolism

27
Q

Cystinuria

A

Cystine in urine
renal disorder
inability of tubuals to reabsorb cyctine

28
Q

cystinuria findings

A

Cystine crystals
cystine kidney stones (most common in kids)
cyanide-nitroprusside test: red-purple color

29
Q

Cystinosis

A

Overflow disorder
incomplete metabolism of cystine
defect in lysosomal membrane
cystine deposits in body (cornea)

30
Q

cystinosis findings

A

polyuria
aminoaciduria

31
Q

homocystinuria

A

increased homocystine
failure to thrive, mental deficits, death

32
Q

homocystinuria findings

A

screening: pos cyanide-nitroprusside: red
Confirm: silver-nitroprusside: red

33
Q

Porphyrin disorders screening

A

Ehrlich’s reaction/Howesch test
fluorescence: 550-600 nm range
(extract w/ glacial acetic acid, blue = negative, purple,pink,red = pos)

34
Q

Hurler’s syndrome

A

Mucopolysacchride disorder
Gargoyalism
usually fatal in childhood

35
Q

Hunter’s syndrome

A

Mucopolysacchride disorder
skeletal deformaty
usually fatal in childhood

36
Q

Sanfilippo’s syndrome

A

mucopolysaccharide disorder
mental deficiencies
most common, least detrimental

37
Q

mucopolysacchride screening tests

A

CTAB (white turbidity)
Acid-albumin turbidity (white turbidity)
metachromic staining (blue spot)

38
Q

Lesch-Nyhan disease

A

failure to inherit, causing large excretion of uric acid crystals

39
Q

Lesch-Nyhan symptoms

A

Gout, self destruction, renal stones, mental dysfunction
Orange particles in diapers

40
Q

Carbohydrate disorders

A

Melituria: increased urinary sugar
inherited disorder

41
Q

galactosuria

A

Major concern
can’t convert galactose to glucose
GALT or G-1-PUT enzyme

42
Q

Galactosemia

A

Toxic intermediate conversion products
Failure to thrive
liver disorder
cataracts

43
Q

galactosemia testing

A

Clinitest (not done anymore)
positive while strip test negative

treat w/ removal of lactose from diet

UA exam 2 (7 decks)

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