Glycogen storage disease type XIV in the Middle East and North Africa region: A case report

This case report expands the limited literature on phosphoglucomutase-1 deficiency (GSD XIV), a rare disorder that combines features of glycogen storage disease and congenital disorders of glycosylation. Given its wide clinical spectrum and often subtle early signs, under-recognition remains common. We report this case to highlight its multisystem involvement, emphasize diagnostic challenges, and reinforce the need for early consideration of GSD XIV in patients with unexplained hepatic, metabolic, and neuromuscular abnormalities.

We describe a case of a three-year-old girl born to consanguineous parents who presented with a constellation of atypical features, including cleft palate with bifid uvula, transient ventricular septal defect, hepatomegaly, persistent transaminitis, recurrent ketotic hypoglycemia, coagulopathy, febrile seizures, and emerging proximal muscle weakness. Despite an extensive workup, including metabolic, infectious, and immunologic testing, no clear diagnosis was identified in early infancy. Whole-exome sequencing revealed a homozygous pathogenic variant in PGM1 (c.1294G>T), confirming the diagnosis of GSD XIV.

This case highlights that genetic analysis is highly useful for diagnosing and specifying the subtype of GSD in patients with suspected multiorgan involvement, particularly those presenting with persistent transaminitis and neurological abnormalities.