Term Name: aromatic L-amino acid decarboxylase deficiency
Synonyms: AADC deficiency
Definition: An inherited metabolic disorder that is characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopa decarboxylase gene (DDC) on chromosome 7p12.
Ontology: Human Disease [DOID:0090123]   ( DOID:0090123 )

Relationships
is a type of: inherited metabolic disorder