Severe infantile hypotonia with ethylmalonic aciduria: case report.

TitleSevere infantile hypotonia with ethylmalonic aciduria: case report.
Publication TypeJournal Article
Year of Publication2008
AuthorsOkuyaz, C, Ezgü, FSüheyl, Biberoglu, G, Zeviani, M, Tiranti, V, Yilgör, E
JournalJ Child Neurol
Date Published2008 Jun
KeywordsAlleles, Butyryl-CoA Dehydrogenase, Developmental Disabilities, Diagnosis, Differential, DNA Mutational Analysis, Female, Genotype, Humans, Infant, Lipid Metabolism, Inborn Errors, Malonates, Muscle Hypotonia, Muscle Weakness, Neurologic Examination, Phenotype, Polymorphism, Genetic

An 8-month-old girl was admitted to an outpatient clinic with significant hypotonia and weakness. Organic acid analysis in urine revealed a significant increase in ethylmalonic acid. A deoxyribonucleic analysis revealed the presence of a 625G>A (G-to-A substitution at nucleotide 625) variant short-chain acyl-coenzyme A dehydrogenase gene polymorphism. With the clinical, biochemical and molecular findings, short-chain acyl-coenzyme A dehydrogenase deficiency was suspected. Because 625G>A and 511C>T (C-to-T substitution at nucleotide 511) genetic variations are also present in 14% of the general population, these are considered to be genetic sensitivity variations rather than causing a disease themselves and to result in possible short-chain acyl-coenzyme A dehydrogenase deficiency in the presence of environmental factors such as fever and hunger as well as cellular, biochemical, and other genetic factors. It was stressed that severe infantile hypotonia could also be the only manifestation of ethylmalonic aciduria spectrum disorders.

Alternate JournalJ. Child Neurol.
Citation Key10.1177/0883073807313048
PubMed ID18539996