Diseases

Alcaptonuria

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A rare recessive metabolic anomaly in humans marked by inability to complete the degradation of tyrosine and phenylalanine resulting in the presence of alkapton in the urine.

SYMPTOMS

Dark spots in the sclera (white) of your eyes., thickened and darkened cartilage in your ears., blue speckled discoloration of your skin, particularly around sweat glands., dark-colored sweat or sweat stains., black earwax., kidney stones and prostate stones.

CAUSES

Alkaptonuria is caused by a mutation on your homogentisate 1,2-dioxygenase (hgd) gene. It's an autosomally recessive condition. This means that both of your parents must have the gene in order to pass the condition on to you. Alkaptonuria is a rare disease.