cystathioninuria

Term ID

DOID:0090142

Synonyms

• cystathionase deficiency
• cystathione gamma-lyase deficiency syndrome
• gamma-cystathionase deficiency

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. (2)

References

• GARD:2428
• ICD10CM:E72.19
• MESH:C535408
• NCI:C129070
• OMIM:219500
• ORDO:212
• SNOMEDCT_US_2023_03_01:13003007
• SNOMEDCT_US_2023_03_01:6885006
• UMLS_CUI:C0220993
• UMLS_CUI:C0268616

Ontology

Human Disease   ( DOID:0090142 )