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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Clinical variability of isovaleric acidemia in a genetically homogeneous population
Journal of Inherited Metabolic Disease, Volume 35, No. 6, Year 2012
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Description
Isovaleric acidemia (IVA) is one of the most common organic acidemias found in South Africa. Since 1983, a significant number of IVA cases have been identified in approximately 20,000 Caucasian patients screened for metabolic defects. IVA is caused by an autosomal recessive deficiency of isovaleryl-CoA dehydrogenase (IVD) resulting in the accumulation of isovaleryl-CoA and its metabolites. In total, 10 IVA patients and three carriers were available for phenotypic and genotypic investigation in this study. All patients were found to be homozygous for a single c.367 G > A (p.G123R) mutation. The amino acid substitution of a glycine to arginine resulted in a markedly reduced steady-state level of the IVD protein, which explains the nearly complete lack of IVD enzyme activity as assessed in fibroblast homogenates. Despite the genetic homogeneity of this South African IVA group, the clinical presentation varied widely, ranging from severe mental handicap and multiple episodes of metabolic derangement to an asymptomatic state. The variation may be due to poor dietary intervention, delayed diagnosis or even epigenetic and polygenetic factors of unknown origin. © 2012 SSIEM and Springer.
Authors & Co-Authors
Dercksen, Marli
South Africa, Potchefstroom
North-west University
Netherlands, Amsterdam
Universiteit Van Amsterdam
Durán, Marinus
Netherlands, Amsterdam
Universiteit Van Amsterdam
IJlst, Lodewijk
Netherlands, Amsterdam
Universiteit Van Amsterdam
Mienie, L. J.
South Africa, Potchefstroom
North-west University
Reinecke, Carolus J.
South Africa, Potchefstroom
North-west University
Ruiter, Jos P.N.
Netherlands, Amsterdam
Universiteit Van Amsterdam
Waterham, Hans R.
Netherlands, Amsterdam
Universiteit Van Amsterdam
Wanders, Ronald J.A.
Netherlands, Amsterdam
Universiteit Van Amsterdam
Statistics
Citations: 45
Authors: 8
Affiliations: 2
Identifiers
Doi:
10.1007/s10545-012-9457-2
ISSN:
01418955
e-ISSN:
15732665
Research Areas
Cancer
Genetics And Genomics
Noncommunicable Diseases
Study Design
Randomised Control Trial
Cross Sectional Study
Study Locations
South Africa