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Homocystinuria due to cystathionine beta-synthase deficiency

Disease definition

A rare metabolic disease of methionine catabolism characterized by accumulation of methionine and homocysteine with clinical involvement of the eye, skeletal system, vascular system and central nervous system (CNS).


Classification level: Disorder
  • Synonym(s):
    • CBS-deficient HCU
    • Cystathionine beta-synthase deficiency
    • Cystathionine beta-synthase-deficient homocystinuria
    • Homocystinuria due to CBS deficiency
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E72.1
  • ICD-11: 5C50.B
  • OMIM: 236200
  • UMLS: C0751202
  • MeSH: -
  • GARD: 6667
  • MedDRA: 10071093

Detailed information

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Disease review articles

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