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A neonatal form of glycogen storage disease type IV.

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

Neurology ; 61(3): 392-4, 2003 Aug 12.

Article in English | MEDLINE | ID: mdl-12913206

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.

Subject(s)

Glycogen Storage Disease Type IV/diagnosis , 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 , DNA Mutational Analysis , Disease Progression , Fatal Outcome , Female , Glucans/analysis , Glycogen Storage Disease Type IV/complications , 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

ABSTRACT

Subject(s)

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