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Clinical Microscopy > Urine Metabolic Disorders > Flashcards

Urine Metabolic Disorders Flashcards

1
Q

Overflow type Aminoaciduria

A

PKU
MSUD
Cystinosis

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2
Q

Renal type aminoaciduria

A

Cystinuria
Fanconi syndrome

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3
Q

The most well known aminoaciduria, may lead to severe mental retardation
‘‘MOUSY urine SWEAT and BREATH odor

A

Phenylketonuria

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4
Q

Screening test for phenylketonuria

A

Guthrie Bacterial Inhibition test
FeCl3 tube test
Phenistrix strip

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5
Q

(-) gene that codes for Fumarylacetoacetate hydrolase (FAH), also seen in severe liver disease

A

Tyrosyluria/ Tyrosinemia

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6
Q

Confirmatory test for Phenyketonuria

A

Ion Exchange HPLC

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7
Q

Screening test for Tyrosyluria

A

FeCl3 tube test: +Transient green
Nitroso-naphthol: + orange-red

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8
Q

Confirmatory test for Tyrosyluria

A

Chromatography
Quantitative serum assay of tyrosine

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9
Q

Alkaptonuria caused by lack of gene that codes for

A

Homogentisic acid oxidase

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10
Q

Brown or black-stained cloth diaper, urine darkens after standing at RT, reddish-stained disposable (plastic diapers

A

Alkaptonuria

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11
Q

Tumor secretes 5-6-dihydroxyindole, urine darkens upon Air exposure

A

Malanuria

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12
Q

Screening test for alkaptonuria

A

FeCl3 tube test: Transient blue
Clinitest: Yellow precipitate
Silver nitrate: Black color

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13
Q

Confirmatory test for alkaptonuria

A

Paper/thin layer chromatography
Capillary electrophoresis
GC-MS

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14
Q

Melanuria Screening test

A

FeCl3 tube test: Gray/Black ppt
Sodium Nitroprusside test: Red
Ehrlich test: Red

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15
Q

Most common IEM in Philippines
^ ketoacids of LEUCINE, ISOLEUCINE, VALINE
(-) gene that codes for (BCKD)

A

MSUD

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16
Q

Screening test for MSUD

A

2-4- dinitrophenylhydrazine (DNPH): + Yellow Turbidity/Precipitate

17
Q

'’SWEATY FEET’’ urine odor due to Isovaleryglycine

A

Isovaleric acidemia

18
Q

What is the Positive reaction of Methylmalonic acidemia detected using p-nitroaniline test

A

Emerald green color

19
Q

Indigo blue urine color upon air exposure

A

indicanuria

20
Q

Tumor of argentaffin or enterochromaffin cells produce serotonin metabolized into

A

5-HIAA

21
Q

Argentaffinoma Screening test

A

FeCl3 tube test: Blue-Green
Nitrosonaphthol with Nitrous acid: Violet

22
Q

Renal tyoe of aminoaciduria, which has defective tubular reabsorption of ‘‘COLA’’

A

Cystinuria

23
Q

tests for Cystinuria and Cystinosis

A

Brand’s Modification of Legal Nitroprusside
Ion-exchange chromatography
Molecular genetics testing

24
Q

Positive results for Brand’s modification of Legal nitroprusside

A

Red-Purple Color

25
Q

Negative gene that codes for an enzyme responsible for cystine metabolism
Types= Nephropathic, Intermediate, Ocular cystinosis

A

Cystinosis

26
Q

Defect in the metabolism of methionine
(-) gene that codes for Cystathione B-synthase

A

Homocystinuria

27
Q

Silver-Nitroprusside test is used to detect Homocystinuria, what is the positive color?

A

Red-Purple

28
Q

urine color in Porphyrias

A

RED/ PURPLE/ BURGUNDY-RED/ PORTWINE

29
Q

Test for UROPORPHYRIN, COPROPORPHYRIN, PROTOPORPHYRIN

A

Fluorescence at 550-600 nm
(+) Violet, Pink, Red Fluorescence

30
Q

CDC recommended test for Lead Poisoning

A

Free Erythrocyte Proptoporp (FEP)

31
Q

Detects D-ALA, PBD

A

Ehrlichs reaction

32
Q

Enzyme deficient in Congenital erythropoietic porphyria

A

uroporphyrinogen cosynthase

33
Q

Gargoylism/ MPS Type I
accumulate in the CORNEA of the eye

A

Hurler Syndrome

34
Q

MPS Type II (Prominent Cheekbone)
Sex-linked recessive, rarely in FEMALES

A

Hunter Syndrome

35
Q

Mental retardation is the oNLY abnormality

A

Sanfilipo syndrome

36
Q

MPS DISORDER Screening tests

A

Acid Albumin and 5% CTAB (+ White Turbidity)
MPS Paper test (Spot test) + Blue color

37
Q

(-) gene that codes for Hypoxanthine Guanine Phosphoribosyltransferase

A

Lesch-Nyhan Syndrome

Clinical Microscopy (10 decks)

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