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A neonatal form of glycogen storage disease type IV
1Department of Pediatrics, Tenri Hospital, Nara, Japan. nambum@tenriyorozu-hp.or.jp
Insights
Neonatal glycogen storage disease type IV (GSD IV) in an infant presented with severe hypotonia and cardiomyopathy. Genetic analysis revealed a homozygous deletion in the GBE1 gene, confirming the diagnosis.
Area of Science:
- Biochemistry
- Genetics
- Pediatric Medicine
Background:
- Glycogen storage disease type IV (GSD IV) is a rare inherited metabolic disorder.
- It is caused by deficiency of glycogen branching enzyme (GBE1), leading to abnormal glycogen accumulation.
- Neonatal onset GSD IV is typically severe and rapidly progressive.
Observation:
- An infant presented with severe hypotonia and cardiomyopathy.
- Muscle biopsy revealed numerous diastase-resistant polyglucosan bodies within muscle fibers.
- Markedly reduced glycogen branching enzyme (GBE1) activity was detected in muscle tissue.
Findings:
- The infant harbored a homozygous single nucleotide deletion in the open reading frame of the GBE1 gene.
- This genetic mutation directly explains the observed GBE1 deficiency and polyglucosan accumulation.
- The findings confirm the molecular basis of GSD IV in this patient.
Implications:
- This case highlights the importance of early GBE1 gene analysis in infants with GSD IV symptoms.
- Understanding the specific mutation provides insight into disease pathogenesis.
- Further research into GBE1 mutations can aid in diagnosis and potential therapeutic strategies for GSD IV.
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.