Case report: Aromatic L-amino acid decarboxylase deficiency in three patient cases from the Kingdom of Saudi Arabia

Case report: Aromatic L-amino acid decarboxylase deficiency in three patient cases from the Kingdom of Saudi Arabia

Aromatic L-amino acid decarboxylase (AADC) deficiency is an ultra-rare and often severe neurometabolic disorder resulting from variants in the dopa decarboxylase (DDC) gene. A timely diagnosis is critical to prevent secondary complications, promote development, and optimize outcomes from future inno...

Full description

Bibliographic Details
Main Authors: Musaad Abukhaled, Laila Alrakaf, Hesham Aldhalaan, Suad Al Yamani
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-01-01
Series:Frontiers in Pediatrics
Subjects:
AADC deficiency
Saudi Arabia
hypotonia
oculogyric crises
developmental delay
delayed diagnosis
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.1016239/full

Similar Items

Similar Items