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Updated: Jun 4, 2026

Biochemical Titration of Glycogen In vitro
Published on: November 24, 2013
Biotin deficiency in a glycogen storage disease type 1b girl fed only with glycogen storage disease-related formula
Kenji Ihara1, Kiyomi Abe, Kou Hayakawa
1Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. k-ihara@pediatr.med.kyushu-u.ac.jp
Abstract:
Glycogen storage disease type I is an autosomal recessive disorder caused by the defect in the glucose-6-phosphate enzyme system. Frequent intake of glucose-containing glycogen storage disease formula, uncooked cornstarch, or both, are usually needed to maintain normal blood glucose level. We report a glycogen storage disease type 1b girl with biotin deficiency caused by an exclusive glucose-containing glycogen storage disease formula for years, presenting with the appearance of severe skin lesions, and diagnosed by urinary organic acid analysis by gas chromato-spectrometry, and blood acylcarnitine analysis by tandem mass-spectrometry.
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