Aromatic Amino Acid Decarboxylase Deficiency Not Responding to Pyridoxine and Bromocriptine Therapy: Case Report and Review of Response to Treatment

Aromatic L-amino acid decarboxylase (AADC) deficiency (MIM #608643) is an autosomal recessive inborn error of monoamines. It is caused by a mutation in the DDC gene that leads to a deficiency in the AADC enzyme. The clinical features of this condition include a combination of dopamine, noradrenaline...

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Bibliographic Details
Main Authors: Majid Alfadhel, Rana Kattan
Format: Article
Language:English
Published: SAGE Publishing 2014-01-01
Series:Journal of Central Nervous System Disease
Online Access:https://doi.org/10.4137/JCNSD.S12938