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Markedly elevated serum biotinidase activity may indicate glycogen storage disease type Ia
B Wolf1, C L Freehauf, J A Thomas
1Department of Pediatrics, Connecticut Children's Medical Center, 282 Washington Street, Hartford, CT 06106, USA. bwolf@ccmckids.org
Journal of Inherited Metabolic Disease
|January 24, 2004
Summary
Elevated serum biotinidase activity in children may indicate glycogen storage disease type Ia, not biotinidase deficiency. This finding aids in diagnosing GSD Ia, prompting further investigation beyond initial assumptions.
Area of Science:
- Biochemistry
- Pediatrics
- Metabolic Disorders
Background:
- Biotinidase deficiency is a rare inherited metabolic disorder.
- Elevated serum biotinidase activity is typically unexpected and warrants further investigation.
Purpose of the Study:
- To investigate the cause of markedly elevated serum biotinidase activities in two pediatric patients.
- To determine if glycogen storage disease type Ia (GSD Ia) is associated with elevated biotinidase activity.
Main Methods:
- Clinical presentation analysis of two children with symptoms suggestive of biotinidase deficiency.
- Measurement of serum biotinidase activities.
- Enzymatic testing for confirmation of GSD Ia.
Main Results:
- Two pediatric patients presented with symptoms mimicking biotinidase deficiency.
- Markedly elevated serum biotinidase activities were observed, ruling out deficiency.
- Enzymatic testing confirmed the diagnosis of glycogen storage disease type Ia in both patients.
Conclusions:
- Markedly elevated serum biotinidase activity in children can be an indicator of glycogen storage disease type Ia.
- GSD Ia should be included in the differential diagnosis for pediatric cases with unexplained high biotinidase activity.
- This finding highlights an important diagnostic clue for GSD Ia that may be overlooked.