Article
Novel variants in aromatic L-amino acid decarboxylase deficiency: Case report of sisters with mild phenotype.
Brain & development - 1 Nov 2021
Hasegawa Yuiko, Nishi Eriko, Mishima Yuko, Sakaguchi Tomohiro, Sekiguchi Futoshi, Miyake Noriko, Kojima Karin, Osaka Hitoshi, Matsumoto Naomichi, Okamoto Nobuhiko
Abstract excerpt
BACKGROUND: Aromatic L-amino acid decarboxylase (AADC) deficiency, caused by a pathogenic variant in the dopa decarboxylase (DDC) gene, is a rare neurometabolic disorder in which catecholamine and serotonin are not synthesized. From a large number of reports, it has been recognized that most affected patients show severe developmental delay in a bedridden state and are unable to speak. On the other hand, patients...
Topics
- Amino Acid Metabolism, Inborn Errors
- Aromatic-L-Amino-Acid Decarboxylases
- Child
- Developmental Disabilities
- Female
- Humans
- Phenotype
- Siblings
- Exome Sequencing