MeSH Browser

MeSH Supplementary: Aromatic amino acid decarboxylase deficiency
Unique ID: C537437
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537437
Entry Term(s): AADC deficiency Aromatic L-amino acid decarboxylase deficiency; Aromatic L-amino acid decarboxylase deficiency; DDC deficiency; Dopa decarboxylase deficiency
Registry Number: 0
Heading Mapped to: *Amino Acid Metabolism, Inborn Errors; Aromatic-L-Amino-Acid Decarboxylases / *deficiency
Frequency: 67
Note: An autosomal recessive inborn error in neurotransmitter metabolism that leads to combined SEROTONIN and CATECHOLAMINE deficiency and is clinically characterized by vegetative symptoms, oculogyric crises, DYSTONIA, and severe neurologic dysfunction, usually beginning in infancy or childhood. Caused by mutations in the DDC gene. OMIM: 107930
Date of Entry: 2010/08/25
Revision Date: 2022/04/20

Aromatic amino acid decarboxylase deficiency MeSH Supplementary Concept Data 2024