aromatic L-amino acid decarboxylase deficiency

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 o

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.

Signs and symptoms

• Axial hypotonia
• Limb dystonia
• Diminished movement
• Oculogyric crisis
• Limb hypertonia
• Athetosis
• Irritability
• Emotional lability
• Gastroesophageal reflux
• Tongue thrusting

Also known as: AADC deficiency