Please use this identifier to cite or link to this item: https://doi.org/10.1016/j.ymgme.2007.04.006
Title: Unusually mild phenotype of AADC deficiency in 2 siblings
Authors: Tay, S.K.H.
Poh, K.S. 
Pang, Y.W.
Low, P.S. 
Goh, D.L.M.
Ong, H.T.
Hyland, K.
Keywords: AADC deficiency
Aromatic l-amino acid decarboxylase deficiency
Biogenic amines
DDC gene
Dystonia
Issue Date: 2007
Source: Tay, S.K.H., Poh, K.S., Pang, Y.W., Low, P.S., Goh, D.L.M., Ong, H.T., Hyland, K. (2007). Unusually mild phenotype of AADC deficiency in 2 siblings. Molecular Genetics and Metabolism 91 (4) : 374-378. ScholarBank@NUS Repository. https://doi.org/10.1016/j.ymgme.2007.04.006
Abstract: Aromatic l-amino acid decarboxylase deficiency is a rare neurotransmitter defect leading to serotonin, dopamine and norepinephrine deficiency. Affected individuals usually present in infancy with severe developmental delay, oculogyric crises and extrapyramidal movements. We present the clinical, molecular and biochemical features of a pair of siblings who presented with fatigability, hypersomnolence and dystonia and who showed excellent response to treatment. Analysis of CSF biogenic amines, plasma AADC levels and direct sequencing of the DDC gene was performed. CSF catecholamine metabolites were reduced, with elevation of 3-O-methyldopa. Plasma AADC activity was undetectable in both siblings, and decreased in their carrier parents. One missense mutation (853C > T) was found in exon 8, and a donor splice site mutation was found in the intron after exon 6 (IVS6+4A > T). Both siblings showed excellent response to MAO inhibitor and dopamine agonist treatment. This report expands the clinical spectrum of AADC deficiency and contributes to the knowledge of the genotype and phenotype correlation for the DDC gene. It is important to recognize the milder phenotypes of the disease as these patients might respond well to therapy. © 2007 Elsevier Inc. All rights reserved.
Source Title: Molecular Genetics and Metabolism
URI: http://scholarbank.nus.edu.sg/handle/10635/25750
ISSN: 10967192
10967206
DOI: 10.1016/j.ymgme.2007.04.006
Appears in Collections:Staff Publications

Show full item record
Files in This Item:
There are no files associated with this item.

SCOPUSTM   
Citations

22
checked on Dec 11, 2017

WEB OF SCIENCETM
Citations

25
checked on Dec 11, 2017

Page view(s)

169
checked on Dec 9, 2017

Google ScholarTM

Check

Altmetric


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.