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cystathioninuria
Summary
- Synonym
-
- 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.
- Super Class
- amino acid metabolic disorder autosomal recessive disease
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P24752 | Acetyl-CoA acetyltransferase, mitochondrial |
