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Congenital disorder of glycosylation - one size does not fit all: a parent's perspective

Konstantin Feinberg1

  • 1Assistant Research Professor of Surgery, Department of Plastic Surgery, School of Medicine, Indiana University-Purdue University Indianapolis (IUPUI), Medical Research and Library (IB), IB424A, 975 W. Walnut St, Indianapolis, IN 46202-5143, USA.

Therapeutic Advances in Rare Disease
|May 14, 2023
PubMed

Insights

This article shares a parent's experience with PMM2-congenital disorder of glycosylation (PMM2-CDG). It details the journey from diagnosis and the impact of off-label epalrestat treatment.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatric Medicine

Background:

  • PMM2-congenital disorder of glycosylation (PMM2-CDG) is a rare inherited metabolic disease.
  • PMM2-CDG affects multiple organ systems, leading to significant developmental challenges.
  • Current treatment options for PMM2-CDG are limited, with many therapies used off-label.

Purpose of the Study:

  • To provide a parental perspective on living with PMM2-CDG.
  • To describe the diagnostic journey for a child with PMM2-CDG.
  • To evaluate the effects of off-label epalrestat treatment in a child with PMM2-CDG.

Main Methods:

  • Qualitative research methodology.
  • Parental narrative and case study approach.
  • Observation and documentation of treatment effects.

Main Results:

  • The parental journey involved significant emotional and logistical challenges.
  • Epalrestat treatment showed potential benefits, though further research is needed.
  • The study highlights the importance of patient and family experiences in understanding rare diseases.

Conclusions:

  • PMM2-CDG presents a complex challenge for affected families.
  • Off-label use of epalrestat warrants further investigation for PMM2-CDG.
  • Parental insights are crucial for comprehensive rare disease management.

Keywords:
PMM2cerebellumcongenital disorder of glycosylationepalrestatprotein glycosylation

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