Publication
Title
Novel presentation of AADC deficiency as a mild phenotype with exercise-induced dystonic crises : a case report
Author
Abstract
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive neurometabolic disorder caused by biallelic pathogenic variants in the DDC gene; approximately 140 patients have been described worldwide. AADC deficiency is characterised by a combined deficiency of dopamine, serotonin, adrenaline and noradrenaline causing a highly variable phenotype with developmental delay, early-onset hypotonia, movement disorders and autonomic symptoms. We expand the phenotype of this neurometabolic disorder by reporting on a paediatric patient with a mild phenotype with atypical exercise-induced dystonic crises, a feature that has not been described in AADC deficiency up till now. Additionally, we also present a second patient with typical characteristics and a severe phenotype. The diagnosis in both patients was confirmed by the presence of a homozygous pathogenic variant in the DDC gene and reduced AADC enzyme plasma activity. The use of whole exome sequencing-based strategies has played a crucial role in diagnosing these two patients.
Language
English
Source (journal)
Heliyon. - London, 2015, currens
Publication
London : Elsevier , 2024
ISSN
2405-8440
DOI
10.1016/J.HELIYON.2023.E23746
Volume/pages
10 :1 (2024) , p. 1-5
Article Reference
e23746
ISI
001156182300001
Pubmed ID
38192810
Full text (Publisher's DOI)
Full text (open access)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identifier
Creation 04.03.2024
Last edited 05.11.2024
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