title: Markedly elevated serum biotinidase activity may indicate glycogen storage disease type Ia.
abstract: We report two children who presented with symptoms suggestive of biotinidase deficiency. Rather than deficiency, markedly elevated serum biotinidase activities were found. Based upon literature reports of elevated biotinidase activities in children with glycogen storage disease (GSD) type Ia, we considered the latter in our differential diagnosis and subsequently confirmed GSD type Ia in both patients by enzymatic testing. GSD type Ia should be considered in children with markedly elevated serum biotinidase activity.
authors.affiliation: Department of Pediatrics, Connecticut Children's Medical Center, 282 Washington Street, Hartford, CT 06106, USA. bwolf@ccmckids.org
authors.forename: B
authors.initials: B
authors.lastname: Wolf
authors.forename: C L
authors.initials: CL
authors.lastname: Freehauf
authors.forename: J A
authors.initials: JA
authors.lastname: Thomas
authors.forename: P L
authors.initials: PL
authors.lastname: Gordon
authors.forename: C L
authors.initials: CL
authors.lastname: Greene
authors.forename: J C
authors.initials: JC
authors.lastname: Ward
mesh_terms: D043523:Biotinidase / Q000097:blood*; D005260:Female; D005953:Glycogen Storage Disease Type I / Q000201:enzymology*; D006801:Humans; D007223:Infant; D008297:Male
chemical_list: D043523:Biotinidase