Key result
Pyridoxine treatment reportedly helps manage seizures in PGAP3-congenital disorders of glycosylation, notably HPMRS type 4.
Why the study?
Does pyridoxine treatment improve seizures in patients with PGAP3-Congenital Disorders of Glycosylation?
Does pyridoxine treatment improve seizures in patients with PGAP3-Congenital Disorders of Glycosylation?
May support pyridoxine for seizures in PGAP3-CDG; Level 5 data leave open need for controlled trials.
Hyperphosphatasia with mental retardation syndrome (HPMRS) is a rare genetic disorder characterized by developmental delay/intellectual disability, seizures, dysmorphic features, and diverse congenital anomalies with elevated alkaline phosphatase. It is an autosomal recessive disease caused by homozygous or compound heterozygous mutations in the PIGV , PIGY , PIGO , PGAP2 , PIGW , and PGAP3 genes, which are involved in glycosylphosphatidylinositol biosynthesis. Mutations in the PGAP3 gene cause HPMRS type 4.
No takes yet. Share an insight, caveat, or question.
Beşen et al. (2026) studied Hyperphosphatasia with mental retardation syndrome (HPMRS) / PGAP3-Congenital Disorders of Glycosylation. Pyridoxine was evaluated on Seizures. The abstract describes the genetic basis of hyperphosphatasia with mental retardation syndrome but reports no clinical findings regarding pyridoxine treatment for seizures.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: