HOMOCYSTINURIA

Disease

HOMOCYSTINURIA

Description

  • It is an inherited disorder that affects the metabolism of amino acid methionine

Symptoms

  • Chest deformities
  • Flush across the cheeks
  • Intellectual disability
  • Long limbs
  • Mental disorders
  • Nearsightedness
  • Tall, thin build
  • Knock knees
  • Arachnodactyly
  • High arches of the feet

Cause

  • Genetic mutation
  • Autosomal recessive chromosomal mutation
  • MTHFR gene mutation

Diagnostic Tests

  • Physical examination of child
  • Deformity of the chest
  • Dislocated lens of the eye
  • Scoliosis
  • Amino acid screen of blood and urine
  • Genetic testing
  • Liver biopsy
  • Enzyme assay
  • Skin biopsy with a fibroblast culture
  • Standard ophthalmic exam
  • X-ray

Treatment

  • Vitamin B6 supplements

High-protein foods :

  • meat
  • fish
  • cheese
  • eggs
  • pulses
  • nuts
  • Vitamin B9 supplements