DISEASES

Disease-gene associations mined from literature

Human genes for aromatic L-amino acid decarboxylase deficiency

Aromatic L-amino acid decarboxylase deficiency [DOID:0090123]

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.

Synonyms:  aromatic L-amino acid decarboxylase deficiency,  DOID:0090123,  aromatic Lamino acid decarboxylase deficiency,  aromatic L-amino acid decarboxylase deficiencies,  AADC deficiency ...