Human genes for aromatic L-amino acid decarboxylase deficiency
Aromatic L-amino acid decarboxylase deficiency [DOID:0090123]
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.
Synonyms: aromatic L-amino acid decarboxylase deficiency, aromatic Lamino acid decarboxylase deficiency, aromatic L-amino acid decarboxylase deficiencies, DOID:0090123, AADC deficiency ...