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- Title
VERY LONG-CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY: CASE REPORT OF HYPOGLYCAEMIA AND RHABDOMYOLYSIS IN A 2-DAY-OLD INFANT.
- Authors
Kiss, Sharmila; Hong, Kai M; Sadowsky, Joel; Greaves, Ronda F; Yaplito‐Lee, Joy; Yaplito-Lee, Joy
- Abstract
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is an autosomal recessive fatty-acid oxidation disorder resulting in the inability to convert and utilise C12-C18 acylcarnitines (OMIM#201475).1 The clinical phenotype is heterogeneous. The laboratory findings of rhabdomyolysis and transaminitis especially AST which is present in high concentrations in skeletal muscles were more in keeping with a fatty-acid oxidation disorder. References 1 Yamada K, Taketani T. Management and diagnosis of mitochondrial fatty acid oxidation disorders: Focus on very-long-chain acyl-CoA dehydrogenase deficiency.
- Subjects
ACYL coenzyme A; GLUCOSE-6-phosphate dehydrogenase deficiency; RHABDOMYOLYSIS; LOW-fat diet; FATTY acid oxidation; INFANTS
- Publication
Journal of Paediatrics & Child Health, 2020, Vol 56, Issue 12, p1996
- ISSN
1034-4810
- Publication type
case study
- DOI
10.1111/jpc.15241