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Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: Identification of a novel mutation
- Source :
- The Journal of Pediatrics; August 1999, Vol. 135 Issue: 2 p250-253, 4p
- Publication Year :
- 1999
-
Abstract
- 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)
Details
- Language :
- English
- ISSN :
- 00223476 and 10976833
- Volume :
- 135
- Issue :
- 2
- Database :
- Supplemental Index
- Journal :
- The Journal of Pediatrics
- Publication Type :
- Periodical
- Accession number :
- ejs10270632
- Full Text :
- https://doi.org/10.1016/S0022-3476(99)70030-2