A Neonatal Form of Glycogen Storage Disease Type IV

Overview

Journal Neurology

Specialty Neurology

Date 2003 Aug 13

PMID 12913206

Citations 6

Authors

M Nambu

K Kawabe

T Fukuda

T B Okuno

S Ohta

I Nonaka

H Sugie

I Nishino

Affiliations

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Abstract

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.

Citing Articles

Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology.

Ichimoto K, Fujisawa T, Shimura M, Fushimi T, Tajika M, Matsunaga A Mol Genet Metab Rep. 2020; 24:100601.

PMID: 32455116 PMC: 7235638. DOI: 10.1016/j.ymgmr.2020.100601.

Analysis of mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review.

Iijima H, Iwano R, Tanaka Y, Muroya K, Fukuda T, Sugie H Mol Genet Metab Rep. 2018; 17:31-37.

PMID: 30228975 PMC: 6140619. DOI: 10.1016/j.ymgmr.2018.09.001.

Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder.

Li S, Chen C, Goldstein J, Wu J, Lemyre E, Burrow T J Inherit Metab Dis. 2010; 33 Suppl 3:S83-90.

PMID: 20058079 DOI: 10.1007/s10545-009-9026-5.

Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene.

Lamperti C, Salani S, Lucchiari S, Bordoni A, Ripolone M, Fagiolari G J Inherit Metab Dis. 2009; 32 Suppl 1:S161-8.

PMID: 19357989 DOI: 10.1007/s10545-009-1134-8.

Neuromuscular forms of glycogen branching enzyme deficiency.

Bruno C, Cassandrini D, Assereto S, Akman H, Minetti C, Di Mauro S Acta Myol. 2007; 26(1):75-8.

PMID: 17915577 PMC: 2949312.