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Neurology 2003;61:392-394
© 2003 American Academy of Neurology
Brief Communications

A neonatal form of glycogen storage disease type IV

M. Nambu, MD PhD, K. Kawabe, MD, T. Fukuda, MD PhD, T. B. Okuno, MD, S. Ohta, MD, I. Nonaka, MD PhD, H. Sugie, MD PhD and I. Nishino, MD PhD

From the Department of Pediatrics (Drs. Nambu, Okuno, and Ohta), Tenri Hospital, Nara; Department of Neuromuscular Research (Drs. Kawabe and Nishino), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo; Department of Pediatric Neurology (Drs. Fukuda and Sugie), Hamamatsu City Medical Center for Developmental Medicine, Shizuoka; and National Center Hospital for Mental, Nervous, and Muscular Disorders (Drs. Nonaka and Nishino), NCNP, Tokyo, Japan.

Address correspondence and reprint requests to Dr. Mitsuhiko Nambu, Department of Pediatrics, Tenri Hospital, 200 Mishima-cho, Tenri, Nara, Japan; e-mail: nambum{at}tenriyorozu-hp.or.jp

We report of an infant with neonatal glycogen storage disease type IV (GSD IV) who was examined for severe hypotonia and cardiomyopathy. On the muscle biopsy there were many fibers with diastase-resistant polyglucosan bodies. Glycogen branching enzyme (GBE1) activity in the muscle was markedly reduced. The infant had a homozygous single nucleotide deletion in the open reading frame of GBE1 gene.




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