Alkaptonuria

external

• Synonyms

  • Ochronisis
  • Homogentisic acid oxidase deficiency
  • Black bone syndrome
  • Black bone disease

• Causes

  • HGD gene mutation

• Effects

  • Homogentisic aciduria
  • Dark urine
  • Alkaptone deposition
  • Osteoarthritis
  • Calcified intervertebral disc
  • Aortic valve calcification
  • Mitral valve calcification
  • Renal calculi
  • Black sclera
  • Calcified Pinna
  • Narrowing of joint space
  • Sensorineural deafness
  • Pigmented ear
  • Alkaptonuria triad

• Parents

  • Aminoacidopathies
  • Autosomal recessive disorder
  • Disease due to genetic mutation

• Description

  • "HGD gene mutation"