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Markedly elevated serum biotinidase activity may indicate glycogen storage disease type Ia
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Markedly elevated serum biotinidase activity may indicate glycogen storage disease type Ia
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Journal Article
Markedly elevated serum biotinidase activity may indicate glycogen storage disease type Ia
2003
Overview
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.
Publisher
Kluwer Academic Publishers,Springer,Blackwell Publishing Ltd
Subject
Biological and medical sciences
/ Female
/ Fundamental and applied biological sciences. Psychology
/ Genetics of eukaryotes. Biological and molecular evolution
/ Glycogen Storage Disease Type I - enzymology
/ Humans
/ Infant
/ Male
/ Molecular and cellular biology
/ Vertebrates: anatomy and physiology, studies on body, several organs or systems
