Article
Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G > C that leads to introduction of a premature termination codon by complete missplicing of the MCAD mRNA and is associated with phenotypic diversity ranging from sudden neonatal death to asymptomatic status.
Molecular genetics and metabolism - 1 Jun 2004
Korman Stanley H, Gutman Alisa, Brooks Rivka, Sinnathamby Thayline, Gregersen Niels, Andresen Brage S
Abstract excerpt
Virtually all patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD) are homozygous or compound heterozygous for the 985A > G mutation, which limits the study of a possible genotype/phenotype correlation. A newborn Palestinian infant died suddenly on the second day of life. A previous sibling had also died in similar circumstances aged 3 weeks. Urine organic acid and bloodspot acylcarnitine analysis...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.