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