Genetic pathogenesis, diagnosis, and treatment of short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism.
Orphanet J Rare Dis
; 16(1): 467, 2021 11 04.
Article
em En
| MEDLINE
| ID: mdl-34736508
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 the most common and most severe subtype, accounting for 40-50% of CHI cases. Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism (SCHAD-HI) is a rare subtype that accounts for less than 1% of all CHI cases that are caused by homozygous mutations in the hydroxyacyl-coenzyme A dehydrogenase (HADH) gene. This review provided a systematic description of the genetic pathogenesis and current progress in the diagnosis and treatment of SCHAD-HI to improve our understanding of this disease.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Hiperinsulinismo Congênito
/
3-Hidroxiacil-CoA Desidrogenases
/
Hiperinsulinismo
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
Limite:
Child
/
Humans
Idioma:
En
Revista:
Orphanet J Rare Dis
Ano de publicação:
2021
Tipo de documento:
Article