Aromatic L-amino acid decarboxylase deficiency in 17 Mainland China patients: Clinical phenotype, molecular spectrum, and therapy overview.

ABSTRACT:

Background

Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive inherited disorder which is characterized by neurological and vegetative symptoms. To date, only 130 patients with AADCD have been reported worldwide.

Methods

We demonstrated 14 previously undescribed patients together with three reportedly patients in Mainland China. Full clinical information was collected, and disease-causing variants in the DDC gene were detected.

Results

The common clinical manifestation of patients, including intermittent oculogyric crises, retarded movement development, and autonomic symptoms. Notably, a patient showed bone-density loss which have not been reported and two mildly phenotype patients improved psychomotor function after being prescribed

SUBMITTER: Dai W 

PROVIDER: S-EPMC7057092 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature