Prenatal diagnosis of glycogen storage disease type IV

Abstract

Prenatal diagnosis of GSD-IV by DNA analysis is highly accurate in genetically confirmed cases.

Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review

“…This mutation has previously been reported as a pathologic mutation in GSD IV [4,13]. The patient also had a missense mutation in exon 10 (c.1279 GNA), resulting in the amino acid substitution p.G427R.…”

Neonatal presentation of lethal neuromuscular glycogen storage disease type IV

“…1,4,6,7,12,[16][17][18] As GSD IV is an autosomal recessive disorder, we suspect that our patient has a second unidentifiable mutation in the GBE1 gene. Uniparental disomy, consanguinity and a deletion could be considered as a likely explanation.…”

“…7,12 Dysmorphic features were also reported following birth in 21% of the cases (Table 1), including a cleft palate in one case and features resembling Crouzon syndrome in another case. 1,13 All 29 reported patients with neuromuscular neonatal GSD IV died, with the longest living patient surviving to 28 months. 13 All patients' deaths were linked to complications due to muscle weakness, most frequently involving myocardial and skeletal muscle and resulting in cardiac and respiratory failure.…”

“…Akman and Konstanidou, both report on a novel splice site mutation at the intron exon boundary of exon 11, which likely caused mRNA instability or abnormal splicing. 1 Multiple cases of Abbreviations: GSD IV, glycogen storage disease type IV; PAS, periodic acid schiff.…”

“…1 It is an autosomal recessive metabolic disorder caused by mutations in the glycogen branching enzyme gene (GBE1). The glycogen branching enzyme is vital for glycogen synthesis, and when deficient results in the accumulation of amylopectin-like configurations of glycogen in the liver, heart, muscle, nervous system and skin.…”