Aromatic L-amino acid decarboxylase (AADC) deficiency

Aromatic L-amino acid decarboxylase (AADC) deficiency is an autosomal recessive disorders of monoamine neurotransmitter metabolism, clinically characterized by vegetative symptoms, oculogyric crises, dystonia, and severe neurologic dysfunction in infancy. Mutations in the gene encoding for the enzyme AADC (DDC) lead to a severe combined deficiency of serotonin and the two catecholamines dopamine and norepinephrine.

Nervous system disease

DDC [HSA:1644] [KO:K01593]

Low homovanillic acidHomovanillic acid [CPD:C05582], 5-hydroxyindoleacetic acid [CPD:C05635], and 3-methoxy-4-hydroxy-phenylglycol [CPD:C05594]
Elevated 3-O-methyl-L-dopa, L-dopa [CPD:C00355], and 5-hydroxytryptophan [CPD:C01017]

Dopamine agonists: Bromocriptine [DR:D03165] or Pergolide [DR:D08339]
MAO inhibitors: Selegiline [DR:D03731]
Pyridoxine [DR:D02179]

PMID:15079002

Pons R, Ford B, Chiriboga CA, Clayton PT, Hinton V, Hyland K, Sharma R, De Vivo DC

Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis.

Neurology 62:1058-65 (2004)

PMID:20505134

Brun L, Ngu LH, Keng WT, Ch'ng GS, Choy YS, Hwu WL, Lee WT, Willemsen MA, Verbeek MM, Wassenberg T, Regal L, Orcesi S, Tonduti D, Accorsi P, Testard H, Abdenur JE, Tay S, Allen GF, Heales S, Kern I, Kato M, Burlina A, Manegold C, Hoffmann GF, Blau N

Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency.

Neurology 75:64-71 (2010)