Urine Metabolic Disorders Flashcards
Overflow type Aminoaciduria
PKU
MSUD
Cystinosis
Renal type aminoaciduria
Cystinuria
Fanconi syndrome
The most well known aminoaciduria, may lead to severe mental retardation
‘‘MOUSY urine SWEAT and BREATH odor
Phenylketonuria
Screening test for phenylketonuria
Guthrie Bacterial Inhibition test
FeCl3 tube test
Phenistrix strip
(-) gene that codes for Fumarylacetoacetate hydrolase (FAH), also seen in severe liver disease
Tyrosyluria/ Tyrosinemia
Confirmatory test for Phenyketonuria
Ion Exchange HPLC
Screening test for Tyrosyluria
FeCl3 tube test: +Transient green
Nitroso-naphthol: + orange-red
Confirmatory test for Tyrosyluria
Chromatography
Quantitative serum assay of tyrosine
Alkaptonuria caused by lack of gene that codes for
Homogentisic acid oxidase
Brown or black-stained cloth diaper, urine darkens after standing at RT, reddish-stained disposable (plastic diapers
Alkaptonuria
Tumor secretes 5-6-dihydroxyindole, urine darkens upon Air exposure
Malanuria
Screening test for alkaptonuria
FeCl3 tube test: Transient blue
Clinitest: Yellow precipitate
Silver nitrate: Black color
Confirmatory test for alkaptonuria
Paper/thin layer chromatography
Capillary electrophoresis
GC-MS
Melanuria Screening test
FeCl3 tube test: Gray/Black ppt
Sodium Nitroprusside test: Red
Ehrlich test: Red
Most common IEM in Philippines
^ ketoacids of LEUCINE, ISOLEUCINE, VALINE
(-) gene that codes for (BCKD)
MSUD
Screening test for MSUD
2-4- dinitrophenylhydrazine (DNPH): + Yellow Turbidity/Precipitate
'’SWEATY FEET’’ urine odor due to Isovaleryglycine
Isovaleric acidemia
What is the Positive reaction of Methylmalonic acidemia detected using p-nitroaniline test
Emerald green color
Indigo blue urine color upon air exposure
indicanuria
Tumor of argentaffin or enterochromaffin cells produce serotonin metabolized into
5-HIAA
Argentaffinoma Screening test
FeCl3 tube test: Blue-Green
Nitrosonaphthol with Nitrous acid: Violet
Renal tyoe of aminoaciduria, which has defective tubular reabsorption of ‘‘COLA’’
Cystinuria
tests for Cystinuria and Cystinosis
Brand’s Modification of Legal Nitroprusside
Ion-exchange chromatography
Molecular genetics testing
Positive results for Brand’s modification of Legal nitroprusside
Red-Purple Color
Negative gene that codes for an enzyme responsible for cystine metabolism
Types= Nephropathic, Intermediate, Ocular cystinosis
Cystinosis
Defect in the metabolism of methionine
(-) gene that codes for Cystathione B-synthase
Homocystinuria
Silver-Nitroprusside test is used to detect Homocystinuria, what is the positive color?
Red-Purple
urine color in Porphyrias
RED/ PURPLE/ BURGUNDY-RED/ PORTWINE
Test for UROPORPHYRIN, COPROPORPHYRIN, PROTOPORPHYRIN
Fluorescence at 550-600 nm
(+) Violet, Pink, Red Fluorescence
CDC recommended test for Lead Poisoning
Free Erythrocyte Proptoporp (FEP)
Detects D-ALA, PBD
Ehrlichs reaction
Enzyme deficient in Congenital erythropoietic porphyria
uroporphyrinogen cosynthase
Gargoylism/ MPS Type I
accumulate in the CORNEA of the eye
Hurler Syndrome
MPS Type II (Prominent Cheekbone)
Sex-linked recessive, rarely in FEMALES
Hunter Syndrome
Mental retardation is the oNLY abnormality
Sanfilipo syndrome
MPS DISORDER Screening tests
Acid Albumin and 5% CTAB (+ White Turbidity)
MPS Paper test (Spot test) + Blue color
(-) gene that codes for Hypoxanthine Guanine Phosphoribosyltransferase
Lesch-Nyhan Syndrome
