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Definition

An inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. It causes developmental and psychomotor delay, poor feeding, lethargy, ptosis, intermittent hypothermia, gastrointestinal disturbances. The onset is early in infancy and inheritance is autosomal recessive.

Acronym

AADCD

Synonyms

Aromatic-L-amino-acid decarboxylase deficiency
DDC deficiency
DOPA decarboxylase deficiency

 
Disclaimer

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