title: Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases.
abstract: Short-chain 3-hydroxyacyl-CoA dehydrogenase (HADH, SCHAD) deficiency (OMIM #231530) represents a recently described disorder of mitochondrial fatty acid beta-oxidation, with less than ten cases described worldwide. The main clinical presentation of this metabolic disease is different from other inherited defects of fatty acid β-oxidation as the hypoglycemia is associated with hyperinsulinism. We present the clinical, biochemical and molecular findings of four new Caucasian patients with HADH deficiency. These new cases contribute to a more comprehensive description of the phenotype, diagnostic biomarkers and treatment options for this poorly defined disease.
authors.affiliation: Unidade de Doenças Metabólicas, Hospital de Crianças Maria Pia, Rua da Boavista, 827, 4050-111 Porto, Portugal. esmeralda.g.martins@gmail.com
authors.forename: Esmeralda
authors.initials: E
authors.lastname: Martins
authors.forename: M Luis
authors.initials: ML
authors.lastname: Cardoso
authors.forename: Esmeralda
authors.initials: E
authors.lastname: Rodrigues
authors.forename: Clara
authors.initials: C
authors.lastname: Barbot
authors.forename: Altina
authors.initials: A
authors.lastname: Ramos
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Bennett
authors.forename: Elisa Leão
authors.initials: EL
authors.lastname: Teles
authors.forename: Laura
authors.initials: L
authors.lastname: Vilarinho
mesh_terms: D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency / Q000235:genetics; D000293:Adolescent; D002648:Child; D003241:Consanguinity; D042241:Early Diagnosis; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D011237:Predictive Value of Tests; D055815:Young Adult
chemical_list: D015094:3-Hydroxyacyl CoA Dehydrogenases