CM METABOLIC DISORDERS
2,4 - DNPH (+) Yellow turbidity/precipitate
Screening Test for MSUD
FeCl3 Tube Test (+) Blue Green Color Phenistix Strip (+) Gray to Gray-Green Color (30 seconds reading time) Guthrie Bacterial Inhibition Test (+) Growth around impregnated disk
Screening test for phenylketonuria
FeCl3 Tube Test (+) Transient Blue Clinitest (+) Yellow Precipitate Alkalinization of fresh urine
Screening tests for Alkaptonuria
FeCl3 Tube Test (+) Gray/Black Precipitate Sodium nitroprusside test (+) Red Ehrlich Test (+) Red
Screening tests for Melanuria
FeCl3 Tube Test (+) Transient Green Nitroso-naphthol (+) Orange-red
Screening tests for Tyrosyluria
Hurler and Hunter Syndrome
Skeletal abnormalities and mental retardation
SIlver-nitroprusside test (+) Red color
Test for Homocystinuria
Obermayer's Test FeCl3 + Urine + Chloroform --> (+) Violet Color
Test for Indicanuria
p-nitroaniline test (+) Emerald green
Test for methylmalonic acidemia
FeCl3 Tube Test (+) Blue-Green Nitroso-naphthol with nitrous acid (+) Violet
Tests for Argentaffinoma
Acid albumin test (+) white turbidity CTAB (Cetyltrimethylammonium bromide) (+) white turbidity MPS Paper Test (+) Blue Color
Tests for mucopolysaccharides
Fluorescence at 550-600 nm
Tests for uroporphyrin, coproporhyrin, and protoporphyrin (+) Violet/Pink/Red Fluorescence
Homogentisic acid oxidase
Enzyme lacking in alkaptonuria
Sanfilippo Syndrome
Mental retardation is the only abnormality
Hunter Syndrome
Mucopolysaccharide disorder that is sex-linked recessive (rarely seen in females)
Hurler Syndrome
Mucopolysaccharides accumulate in the cornea of the eye
Phenylketonuria Tyrosyluria/Tyrosinemia Alkaptonuria Melanuria
Phenylalanine-Tyrosine Disorders (4)
Cystinuria
Renal type of aminoaciduria
Bacillus subtilis is cultured with beta-2-thienylalanine (growth inhibitor), phenylalanine counteracts the action of beta-2-thienylalanine --> (+) Growth
What is Guthrie Bacterial Inhibition?
D-ALA
What is increased in lead poisoning?
Leucine, Isoleucine, Valine
What is increased in the blood in MSUD?
MSUD Organic Acidemias
Branched Chain Amino Acid Disorders (2)
Test for Cystinuria and cystinosis using CYANIDE NITROPRUSSIDE (+) Red-purple color
Brand's modification of Legal's nitroprusside
Free Erythrocyte Protoporphyrin (FEP)
CDC recommended test for lead poisoning
Colorless
Color of urine in lead poisoning
Cystinuria Cystinosis Homocystinuria
Cystine Disorders (3)
Cystinosis
Cystine deposits in many areas of the body (bone marrow, cornea, lymph nodes, and internal organs)
"COLA" Cystine (least soluble) Lysine Ornithine (soluble) Arginine (Soluble)
Cystinuria in the defective tubular reabsorption of...
Hypoxanthine-guanine phosphoribosyltransferase (HPRT)
Deficient enzyme in Lesch-Nyhan Disease
Cystathione Beta-synthase
Deficient enzyme in homocystinuria
Ehrlich's Reaction
Detects D-ALA and porphobilinogen
Type 1: Fumarylacetoacetate hydrolase (FAH) Type 2: Tyrosine aminotransferase Type 3: p-hydroxyphenyl-pyruvic acid dioxygenase
Enzyme deficiencies in Tyrosinemia/Tyrosyluria
Indicanuria
Indigo color of urine upon air exposure
ALA synthase Ferrochelatase
Lead poisoning inhibits what enzymes?
Indicanuria - Intestinal Disorders - Hartnup Disease Argentaffinoma
Tryptophan Disorders (2)
Urine darkens after becoming alkaline from standing at room temperature
Urine characteristic in alkaptonuria
Melanuria
Urine darkens upon air exposure