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Cystathioninuria

Disease definition

A rare inborn error of metabolism characterized by abnormal accumulation of plasma cystathionine and subsequent increased urinary excretion due to cystathionine gamma-lyase deficiency. The condition is considered benign without pathological relevance. Mode of inheritance is autosomal recessive.

ORPHA:212

Classification level: Disorder
  • Synonym(s):
    • Cystathionase deficiency
    • Cystathionine gamma-lyase deficiency syndrome
    • Gamma-cystathionase deficiency
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E72.1
  • OMIM: 219500
  • UMLS: C0220993  C0268616
  • MeSH: C535408
  • GARD: 2428
  • MedDRA: -
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