Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls

Pediatr Res. 2018 Dec;84(6):837-841. doi: 10.1038/s41390-018-0206-6. Epub 2018 Oct 18.

Abstract

Background: Congenital Disorders of Glycosylation (CDG) are genetic diseases caused by hypoglycosylation of glycoproteins and glycolipids. Most CDG are multisystem disorders with mild to severe involvement.

Methods: We studied 554 patients (2007-2017) with a clinical phenotype compatible with a CDG. Screening was performed by serum transferrin isoelectric focusing. The diagnosis was confirmed by genetic testing (Sanger or exome sequencing).

Results: A confirmed abnormal pattern was found in nine patients. Seven patients showed a type 1 pattern: four with PMM2-CDG, two with ALG2-CDG, and one with classical galactosemia. A type 2 pattern was found in two patients: one with a CDG-IIx and one with a transferrin protein variant. Abnormal transferrin pattern were observed in a patient with a myopathy due to a COL6A2 gene variant.

Conclusions: CDG screening in Argentina from 2007 to 2017 revealed 4 PMM2-CDG patients, 2 ALG2-CDG patients with a novel homozygous gene variant and 1 CDG-IIx.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Argentina / epidemiology
  • Child
  • Child, Preschool
  • Collagen Type VI / genetics
  • Congenital Disorders of Glycosylation / diagnosis*
  • Exome
  • Female
  • Galactosemias / metabolism
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Genetic Variation
  • Glycolipids / metabolism*
  • Glycoproteins / metabolism*
  • Glycosylation
  • Homozygote
  • Humans
  • Infant
  • Infant, Newborn
  • Isoelectric Focusing
  • Male
  • Mass Screening / methods*
  • Neonatal Screening / methods*
  • Phenotype
  • Sequence Analysis, DNA
  • Transferrin / metabolism

Substances

  • COL6A2 protein, human
  • Collagen Type VI
  • Glycolipids
  • Glycoproteins
  • Transferrin