Melanuria, MSUD, TTAA, CAA

The pigment responsible for the dark color of the hair, skin, eyes

Melanin

Proliferation of the normal melanin producing cells

Melanoma

Melanocytes secretes this colorless pigment called

5,6 Dihydroxyindole

5,6 Dihydroxyindole oxidizes to

Melanogen

MSUD is due to failure to inherit gene for

Oxidative Decarboxylation

MSUD color in 2,4-DNPH

Yellow turbidity/ppt

MSUD color in FeCl2

Green gray

Confirmatory Test for MSUD

Gas/TLC or Nuclear Magnetic Resonance Spectro

List the Organic acidemias

Isovaleric

Propionic

Methylmalonic

Isovaleryl CoA deficiency and error in the metabolic pathway causes this Organic acidemias

Isovaleric

Propionic

Methylmalonic

Sweaty feet

Isovaleric

Turns emerald green in P-nitroanilline test

Methylmalonic

Contains the methyl group that branches from the main aliphatic carbon chain

Branch carbon chain

Caused by the accumulation of one or more of the early amino acids degradation products

MSUD

Caused by accumulation of organic acids produced further down in the amino acid metabolic pathway

Organic acidemias

Significant laboratory finding in the Branched chain amino acid disorders is the presence of

Ketonuria

Amino acids involved in MSUD

Leucine

Isoleucine

Valine

MSUD results from the buildup of these keto acids:

A-ketoisovaleric

A-ketoisocaproic

A-keto- b - methylvaleric

Tryptophan aminoaciduria

Indicanuria

5-HIAA

Intestinal disorders-obstruction, bacteria, malabsorption

Indicanuria

Renal tubular abnormality associated with indicanuria

Hartnup disease

Color produced by Indicanuria

Indigo blue

Color result of indicanuria in FeCl3

Deep blue or Violet

Argentaffin cell tumors

5-HIAA

Normal value

25mg/day

Color of 5-HIAA in Nitrosonaphthol

Purple to black

Color of 5-HIAA in FeCl3

Blue-green

Inability of the tubules to reabsorb Cystine

Cystinuria

Sulfur odor

Cystinuria

Cystinosis

Homocystinuria

Colors red-purple in Cyanide nitropusside test

Cystinuria

Cystinosis

Homocystinuria

Incomplete cystine metabolism

Cystinosis

Defects in methionine metabolism

Homocystinuria

Disorders in porphyrin metabolism

Porphyrias

Negative for the gene ALA synthetase

ALA hydratase def prophyria

Negative for the gene Uroporphyrinogen synthase

Acute intermittent porphyria

Negative for the gene Uroporphyrinogen cosynthase

Congenital erythropoietic

Negative for the gene Uroporphyrinogen decarboxylase

Porphyria cutanea tarda

Negative for the gene Coproporphyrinogen oxidase

Hereditary coproporphyria

Negative for the gene protoporphyrinogen oxidase

Variegate porphyria

Specimen for porphyria screening test

Urine, stool, Blood, Bile

Detects d-ALA and porphobilinogen

Ehrlich's Reaction

Tests for uroporphyrin, coproporphyrin and protoporphyrin that colors Violet, pink, red

Fluorescence at 550-600nm

CDC recommended for lead poisoning

FEP