Natural History of Aromatic L-Amino Acid Decarboxylase Deficiency in Taiwan.

ABSTRACT:

Objectives

Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare inherited disorder of monoamine neurotransmitter synthesis; this deficiency leads to psychomotor delay, hypotonia, oculogyric crises, dystonia, and extraneurological symptoms. This study aimed to provide further insight into the clinical course of AADC deficiency in Taiwan.

Patients and methods

We present a retrospective, descriptive, single-center study of 37 children with a confirmed diagnosis of AADC deficiency. Their medical histories were reviewed for motor milestones, motor development, DDC mutation, and body weight. The termination point for each patient in this study was defined as no further follow-up, death, or enrollment in a gene therapy trial.

Results

The median age of the study pa

SUBMITTER: Hwu WL 

PROVIDER: S-EPMC6122029 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature