cystathioninuria (Q5201186)
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amino acid metabolic disorder characterized by elevated plasma and urinary cystathionine levels that has material basis in homozygous or compound heterozygous mutation in the CTH gene on chromosome 1p31
- cystathione gamma-lyase deficiency syndrome
- gamma-cystathionase deficiency
- cystathionase deficiency
- CYSTATHIONINURIA
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | cystathioninuria |
amino acid metabolic disorder characterized by elevated plasma and urinary cystathionine levels that has material basis in homozygous or compound heterozygous mutation in the CTH gene on chromosome 1p31 |
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C129070
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Identifiers
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Sitelinks
Wikipedia(3 entries)
- dewiki Cystathioninurie
- enwiki Cystathioninuria
- frwiki Cystathioninurie