Aromatic L-Amino acid decarboxylase deficiency: A new case from Turkey with a novel mutation

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...

Full description

Bibliographic Details
Main Authors: Kivilcim Gucuyener, Cigdem Seher Kasapkara, Leyla Tumer, Marcel M. Verbeek
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2014-01-01
Series:Annals of Indian Academy of Neurology
Subjects:
Aromatic L-amino acid decarboxylase deficiency
case report
novel mutation
Online Access:http://www.annalsofian.org/article.asp?issn=0972-2327;year=2014;volume=17;issue=2;spage=234;epage=236;aulast=Gucuyener

Internet

http://www.annalsofian.org/article.asp?issn=0972-2327;year=2014;volume=17;issue=2;spage=234;epage=236;aulast=Gucuyener

Similar Items