A neonatal form of glycogen storage disease type IV

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 reduc...

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Veröffentlicht in:	Neurology 2003-08, Vol.61 (3), p.392-394
Hauptverfasser:	Nambu, M, Kawabe, K, Fukuda, T, Okuno, T B, Ohta, S, Nonaka, I, Sugie, H, Nishino, I
Format:	Artikel
Sprache:	eng
Schlagworte:	1,4-alpha-Glucan Branching Enzyme - analysis 1,4-alpha-Glucan Branching Enzyme - deficiency 1,4-alpha-Glucan Branching Enzyme - genetics Cardiomyopathies - complications Cardiomyopathies - diagnosis Creatine Kinase - blood Disease Progression DNA Mutational Analysis Fatal Outcome Female Glucans - analysis Glycogen Storage Disease Type IV - complications Glycogen Storage Disease Type IV - diagnosis Glycogen Storage Disease Type IV - genetics Humans Inclusion Bodies - ultrastructure Infant, Newborn Muscle, Skeletal - chemistry Muscle, Skeletal - enzymology Muscle, Skeletal - pathology Mutation Polyhydramnios - complications Polyhydramnios - diagnostic imaging Pregnancy Sequence Deletion Ultrasonography
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Zusammenfassung:	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.
ISSN:	0028-3878 1526-632X
DOI:	10.1212/01.wnl.0000073141.61695.b3