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All Diseases > PGAP3-Congenital Disorder of Glycosylation
PGAP3-Congenital Disorder of Glycosylation (PGAP3-CDG)
Alternative Names: Post-GPI Attachment to Proteins Phospholipase 3 Deficiency or Hyperphosphatasia with Mental Retardation Syndrome 4
Disease Category: Congenital Disorders of Glycosylation
PGAP3-congenital disorder of glycosylation (PGAP3-CDG) is also known as Post-GPI Attachment to Proteins Phospholipase 3 deficiency or Hyperphosphatasia with mental retardation syndrome 4. It is a rare genetic disease grouped with other disorders disrupting Glycosylphosphatidylinositol (GPI-) anchor synthesis. It is characterized by intellectual disability and increased levels of an enzyme called alkaline phosphatase (AP) in the blood (hyperphosphatasia).
Research groups studying this disease
Congenital Disorders of Glycosylation
Frontiers in Congenital Disorders of Glycosylation (FCDGC)View Disease Definition
The investigators are conducting a natural history study of patients with congenital disorders of glycosylation (CDG). The study will look into the progression of the disease amongst the participants and also look at the clinical symptoms and how they vary amongst different diseased population groups. The participants will be asked to fill out questionnaires either on their own or with a provider that will grade the severity of disease and document symptoms and diet. Participants will have an opportunity to submit blood, urine, and stool samples that will be tested for biomarkers for CDG. Participants will also complete dietary food records, physical exams, CDG scores, and the PROMIS questionnaires to assess disease progression and severity.
A patient-led infrastructure for research, awareness, and education for Congenital Disorders of Glycosylation.
Promotes awareness of congenital disorders of glycosylation (CDG) and NGLY1-deficiency, provides resources, and funds scientific research.
Connects patients and families affected by congenital disorders of glycosylation (CDG) to clinicians and researchers in Canada and globally.