Genetic pathogenesis, diagnosis, and treatment of short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism
Sign Up to like & getrecommendations! Published in 2021 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-021-02088-6
Abstract: Congenital hyperinsulinism (CHI), a major cause of persistent and recurrent hypoglycemia in infancy and childhood. Numerous pathogenic genes have been associated with 14 known genetic subtypes of CHI. Adenosine triphosphate-sensitive potassium channel hyperinsulinism (KATP-HI) is… read more here.
Keywords: chain hydroxyacyl; coenzyme dehydrogenase; short chain; hyperinsulinism ... See more keywords
A novel mutation in ACADVL causing very long-chain acyl-coenzyme-A dehydrogenase deficiency in a South Asian pediatric patient: a case report and review of the literature
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Medical Case Reports"
DOI: 10.1186/s13256-021-03013-y
Abstract: Background Very long-chain acyl-coenzyme-A dehydrogenase deficiency is a rare, severe life-threatening metabolic disorder of mitochondrial fatty acid oxidation, caused by mutations in ACADVL gene. Here we present a genetically confirmed case of a South Asian… read more here.
Keywords: acyl coenzyme; dehydrogenase deficiency; case; long chain ... See more keywords
Glycogen storage disease type Ia misdiagnosed as multiple acyl-coenzyme A dehydrogenase deficiency by mass spectrometry
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2022.999596
Abstract: Objective To report a case of glycogen storage disease (GSD) type Ia misdiagnosed as multiple acyl-coenzyme a dehydrogenase deficiency (MADD) by mass spectrometry. Methods A 7 months old boy was admitted to our hospital for… read more here.
Keywords: multiple acyl; dehydrogenase; dehydrogenase deficiency; mass spectrometry ... See more keywords