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Diseases

Homogentisic Acid Oxidase Deficiency

A deficiency of the hepatic enzyme homogentisate 1,2-dioxygenase (HGO) forces the accumulation of homogentisic acid, which is rapidly cleared in the kidney and excreted. Upon contact with air, homogentisic acid is oxidized to form a pigmentlike polymeric material responsible for the black color of standing 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

It 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.

Chitradurga

Seebara, Behind Indian Oil Petrol Bunk, Basavakumara Swamy Mutt, Chitradurga - 577504

Kunigal

K. Hurali Borasandra, Gowdagere Post, Kunigal Taluk - 572130

Bengaluru

36, KG Gollarapalya, Bolare (P), Kanakapura Road, Bengaluru - 560082