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A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death.
| Content Provider | Semantic Scholar |
|---|---|
| Author | Brackett, Jeffrey C. Sims, Harold F. Steiner, Robert D. Nunge, M. Zimmerman, Erin M. Demartinville, B. Rinaldo, Piero Slaugh, Rachel Strauss, Arnold W. |
| Copyright Year | 1994 |
| Abstract | Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common known genetic disorder of fatty acid oxidation. Most (approximately 80%) cases are homozygous for a single mutation: A to G replacement at nucleotide 985 (A985G). MCAD deficiency typically presents in the second year of life as hypoketotic hypoglycemia associated with fasting and may progress to liver failure, coma, and death. Prompt diagnosis and management may prevent long-term sequelae. MCAD deficiency was verified by analysis of urinary acylglycine and serum acylcarnitine species from two neonates referred for diagnosis. Full-length cDNA and MCAD exon 7 and 11 genomic clones were prepared for sequence analysis. Normal and mutant cDNAs were expressed in bacteria, and enzymatic activity was assayed by the ferricenium hexaflurophosphate method. Four compound heterozygote individuals from two unrelated families with A985G on one allele and a novel G to A mutation at nucleotide 583 (G583A) as the second mutant allele presented with MCAD deficiency in the first week of life. The expressed G583A mutant protein lacks enzymatic activity. This novel mutation, G583A, is associated with severe MCAD deficiency causing hypoglycemia or sudden, unexpected neonatal death. This previously unrecognized phenotype of MCAD deficiency may contribute significantly to preventable infant deaths. |
| Starting Page | 967 |
| Ending Page | 969 |
| Page Count | 3 |
| File Format | PDF HTM / HTML |
| Alternate Webpage(s) | https://www.jci.org/articles/view/117486/pdf/render |
| PubMed reference number | 7929823v1 |
| Volume Number | 94 |
| Issue Number | 4 |
| Journal | The Journal of clinical investigation |
| Language | English |
| Access Restriction | Open |
| Subject Keyword | Cessation of life Classical galactosemia Comatose DNA, Complementary Deficiency of butyryl-CoA dehydrogenase Exons Fatty Acids Hereditary Diseases Homozygote Hypoglycemia Infant, Newborn Lesch-Nyhan Syndrome Liver Failure Mutation Nucleotides Sequela of disorder Sequence Analysis acyl-CoA dehydrogenase acylcarnitine fatty acid oxidation |
| Content Type | Text |
| Resource Type | Article |
