Alkaptonuri in children (Ochronose) 4/5 (1)

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Alkaptonuria. The urine in the glass B has been for 24 hours and has become dark. Alajoulin OA, 2015. Openi. CC BY NC SA 3.0

Definition

Alkaptonuria is a rare, hereditary disease that causes the amino acids phenyl-alanine and tyrosine not to degrade and accumulate in cartilage and heart valves.

Symptoms of Alkaptonuri

  • Striking brown urine from childhood on
  • Brown pigment patches on ear cartilage and eyes (on sclera)
  • Symptom debut from 30 years of age
  • Increasing pain
    • Back
    • Hips
    • Knees
  • Osteoarthritis (Ochronose)
  • Late injuries (Achilles tendon rupture)
  • Osteoporosis
  • Cardiovascular disease (aortic and mitral valve)
  • Stone formation
    • Nephrolithiasis
    • Gallstones
    • Salivary gland stone
  • "White intervertebral Discs" (calcified discs) on X-rays
  • "Black Invertebrates" by DEXA scan (osteoporosis assessment)

Diagnosis

  • Urine:
    • The amount of homogenticic acid is determined by chromatography after urin collection over 24 hours
  • Genetic testing

Treatment

  • No healing treatment
  • Unsafe effect, but high doses of ascorbic acid (vitamin C) and diet that reduces the intake of phenylalanine and tyrosine (guidance via nutritionist) are attempted.

Prognosis

  • Pain and reduced quality of life
  • Often need for joint prostheses
  • Not shortened life span

References

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