描述
Aromatic L-Aminoacid Decarboxylase Deficiency (DOPA decarboxylase; DDC) is an autosomal recessive disease caused by a mutation in the DDC gene which codes for aromatic-L-aminoacid decarboxylase. A deficiency in this enzyme results in accumulation of 3-methoxytyrosine, 5-hydroxy-L-tryptophan, and L-Dopa in plasma, spinal fluid, and urine; 3-methoxytyramine and dopamine in urine. It also results in decreased concentrations of homovanillic acid, S-adenosylmethionine, and 5-hydroxytryptophol in spinal fluid; and epinephrine, norepinephrine in plasma. Symptoms include temperature instability, hypotonia, mental and motor retardation, and cerebral atrophy.