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Biotin Deficiency in a Glycogen Storage Disease Type 1b Girl Fed Only with Glycogen Storage Disease‐Related Formula
Author(s) -
IHARA Kenji,
ABE KIYOMI,
HAYAKAWA KOU,
MAKIMURA MIKA,
KOJIMAISHII KANAKO,
HARA TOSHIRO
Publication year - 2011
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.2011.01238.x
Subject(s) - glycogen storage disease , medicine , glycogen , glycogen storage disease type i , biotin , endocrinology , biochemistry , chemistry
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.