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Urinary clues to inborn errors of metabolism

Urinary clues to inborn errors of metabolism
  Potential disorder
Urine color
Black (upon standing/oxidation) Homogentisic aciduria (alkaptonuria)
Blue Tryptophan malabsorption
Pink Disorders with hematuria, kidney stone formation
Port wine (upon standing/oxidation) Porphyrias
Yellow-orange Disorders with increased uric acid
Urine odor*
Acrid, sweaty feet Glutaric acidemia II
Cabbage Tyrosinemia
Fishy Trimethlylaminuria, dimethylglycinuria
Maple syrup, curry Maple syrup urine disease
Mousy Phenylketonuria
Sweaty feet Isovaleric acidemia
Sweet Beta-ketothiolase deficiency
Swimming pool Hawkinsinuria
Urinary_clues_to_IEM.htm
* Only in acute phases or depending on food intake.
Adapted from: Wappner RS, Hainline BE. Inborn errors of metabolism. In: Oski's Pediatrics. Principles and Practice, 3rd ed, McMillan JA, DeAngelis CD, Feigin RD, Warshaw JB (Eds), Lippincott, Williams & Wilkins, Philadelphia, 1999. p.1823 and Saudubray JM, Chappentier C. Clinical phenotypes: Diagnosis/algorithms. In: Metabolic and Molecular Bases of Inherited Disease, 8th ed, Scriver CR, Beaudet AL, Sly WS, Valle D (Eds), McGraw-Hill, New York, 2001. p.1327.
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