- Compound
- CDB005143 (L-Cystathionine)
- Term
- Cystathioninuria
- Definition
- An 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. (do).
- Parent Term
- Health condition
- Parent Definition
- A health effect that consists on short or long-term disease, condition, disorder, syndrome or constant abnormality.
- Synonyms
Cystathionase deficiencyOther Compounds Mapped to 'Cystathioninuria'CDB005143 (L-Cystathionine)References