aromatic L-amino acid decarboxylase deficiency
Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction.
MONDO:0017759
disorder of catecholamine synthesis
is_a
AADC deficiency
exact
aromatic L-amino acid decarboxylase deficiency
exact
aromatic L-amino-acid decarboxylase deficiency
exact
aromatic amino acid decarboxylase deficiency
related