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GENATLAS PHENOTYPE

last update : 9/04/08

Symbol	DDC
Location	7p12.1
Name	DOPA decarboxylase deficiency
Other name(s)	aromatic L-amino acid decarboxylase deficiency DDC deficiency
Corresponding gene	DDC
Other symbol(s)	AADC
Main clinical features	in infancy hypotonia, paroxysmal episodes of inconsolable crying with eyes 'rolling backwards', extension of extremities, and temperature instability severe developmental delay, profound hypotonia, and increased muscle tone in the extremities with brisk tendon reflexes and extensor plantar responses
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Gene product

Name	DOPA decarboxylase (DDC)

Remark(s)

Genotype/Phenotype correlations

missense mutation (853C > T) in exon 8, leading to mild phenotype and showed excellent response to MAO inhibitor and dopamine agonist treatment