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Title
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Novel presentation of AADC deficiency as a mild phenotype with exercise-induced dystonic crises : a case report
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Author
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Abstract
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| 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. |
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Language
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English
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Source (journal)
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Heliyon. - London, 2015, currens
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Publication
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London
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Elsevier
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2024
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ISSN
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2405-8440
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DOI
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10.1016/J.HELIYON.2023.E23746
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Volume/pages
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10
:1
(2024)
, p. 1-5
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Article Reference
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e23746
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ISI
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001156182300001
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Pubmed ID
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38192810
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Full text (Publisher's DOI)
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Full text (open access)
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