Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: identification of a novel mutation
| Autor: | Sihoun Hahn, Piero Rinaldo, Hye-Ran Yoon, Arnold W. Strauss, Beverly Gibson, H F Sims, Eun-Ha Lee, Chang Ho Hong, Jo Won Jung |
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| Rok vydání: | 1999 |
| Předmět: |
Fatty Acid Desaturases
Male Coenzyme A Mutant medicine.disease_cause Compound heterozygosity Arginine Lipid Metabolism Inborn Errors chemistry.chemical_compound Exon Genetic Heterogeneity Fatal Outcome Very long-chain acyl-coenzyme A dehydrogenase deficiency Carnitine medicine Humans Allele Genetics Mutation Korea biology Acyl-CoA Dehydrogenase Long-Chain Acyl CoA dehydrogenase Infant medicine.disease chemistry Pediatrics Perinatology and Child Health biology.protein Codon Terminator Cardiomyopathies |
| Zdroj: | The Journal of pediatrics. 135(2 Pt 1) |
| ISSN: | 0022-3476 |
| Popis: | A 5-month-old Korean boy who presented with lethargy and cardiomyopathy was diagnosed with very long chain acyl coenzyme A dehydrogenase (VLCAD) deficiency by organic acid, fatty acid, acylcarnitine, and molecular genetic analysis. The patient was a compound heterozygote for mutations in the VLCAD gene. One allele contains a 3-bp deletion in exon 6, deleting glutamic acid in codon 130 (E130del ); this allele is of paternal origin. The patient’s maternally derived allele is a novel mutation, C1843T in exon 20, which creates a premature termination codon (R615stop ). Although molecular genetic characterization of VLCAD deficiency is limited to a few patients, heterogeneity of mutations is already apparent. However, the E130del is a relatively frequent mutant allele, which has been noted in 2 previously identified patients. The 2 mutant alleles in our patient appear to be responsible for his severe and fatal clinical manifestations. (J Pediatr 1999;135:250-3) |
| Databáze: | OpenAIRE |
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