Aromatic L-Amino acid decarboxylase deficiency: A new case from Turkey with a novel mutation
Aromatic L-amino acid decarboxylase (AADC), a vitamin B6-requiring enzyme that converts L-dopa to dopamine and 5-hydroxytryptophan to serotonin. Deficiency of this enzyme results in developmental delay, muscular hypotonia, dystonia, involuntary movements, autonomic dysfunction, and oculogyric crises...
Main Authors: | , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
Wolters Kluwer Medknow Publications
2014-01-01
|
Series: | Annals of Indian Academy of Neurology |
Subjects: | |
Online Access: | http://www.annalsofian.org/article.asp?issn=0972-2327;year=2014;volume=17;issue=2;spage=234;epage=236;aulast=Gucuyener |