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Cystathioninuria

Disease definition

Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases.

ORPHA:212

  • Synonym(s):
    • Cystathionase deficiency
    • Cystathione 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: -

Additional information

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