Version: 8.0.0
Date: Tue Jan 28 2025
cystathioninuria
DOID:0090142
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

cystathioninuria

Definition
An amino acid metabolic disorder that is characterized by elevated plasma and urinary cystathionine levels that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding cystathionine gamma-lyase (CTH) on chromosome 1p31.
Synonyms
  • cystathionase deficiency
  • cystathione gamma-lyase deficiency syndrome
Cross References
Parent Terms
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None
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