Cystathionase deficiencyOther Metabolites Mapped to 'Cystathioninuria'HMDB0002381 (N-Acetylcystathionine) HMDB0000099 (L-Cystathionine)
- HMDB0002381 (N-Acetylcystathionine)
- 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.