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Markedly elevated serum biotinidase activity may indicate glycogen storage disease type Ia
Author(s) -
Wolf B.,
Freehauf C. L.,
Thomas J. A.,
Gordon P. L.,
Greene C. L.,
Ward J. C.
Publication year - 2003
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/b:boli.0000009949.65855.4c
Subject(s) - biotinidase deficiency , medicine , endocrinology , glycogen storage disease , glycogen , glycogen storage disease type i , newborn screening , pediatrics
Summary: 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.