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
External Links
Disease Ontology
DOID:9263
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 6 entries
Gene ID Gene Symbol Description Source
501 ALDH7A1 aldehyde dehydrogenase 7 family member A1
847 CAT catalase
1581 CYP7A1 cytochrome P450 family 7 subfamily A member 1
4594 MMUT methylmalonyl-CoA mutase
6319 SCD stearoyl-CoA desaturase
10400 PEMT phosphatidylethanolamine N-methyltransferase

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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: August 19, 2024