Aadc deficiencyOther Metabolites Mapped to 'Aromatic l-amino acid decarboxylase deficiency'HMDB0000763 (5-Hydroxyindoleacetic acid) HMDB0000866 (N-Acetyl-L-tyrosine) HMDB0001490 (Vanylglycol) HMDB0011714 (Vanilpyruvic acid) HMDB0011716 (N-Acetylvanilalanine) HMDB0000073 (Dopamine) HMDB0000291 (Vanillylmandelic acid) HMDB0001434 (3-Methoxytyrosine) HMDB0000118 (Homovanillic acid) HMDB0000472 (5-Hydroxy-L-tryptophan)
- HMDB0000866 (N-Acetyl-L-tyrosine)
- Aromatic l-amino acid decarboxylase deficiency
- An inherited metabolic disorder characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction with onset in infancy or childhood that has material basis in homozygous or compound heterozygous mutation in the ddc gene on chromosome 7p12. (do).
- Parent Term
- Health condition
- Parent Definition
- A health effect that consists on short or long-term disease, condition, disorder, syndrome or constant abnormality.