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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
Issue Date: 2007
Citation: 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.
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
ISSN: 10967192
DOI: 10.1016/j.ymgme.2007.04.006
Appears in Collections:Staff Publications

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