homocystinuria

Summary
Synonym
  • CBS deficiency
  • cystathionine beta synthase deficiency
  • cystathionine synthase deficiency
Definition
An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine.
Super Class
amino acid metabolic disorder
Disease Ontology
DOID:9263
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
875 CBS cystathionine beta-synthase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024