Ten Years of Screening for Congenital Disorders of Glycosylation in Argentina: Case Studies and Pitfalls

ASTEGGIANO, CARLA GABRIELA; PAPAZOGLU MAGALI ; BISTUÉ MILLÓN MARÍA BEATRIZ; PERALTA MARÍA FERNANDA; AZAR NYDIA BEATRIZ; SPÉCOLA NORMA; GUELBERT NORBERTO BERNARDO; SULDRUP NIELS; PEREYRA MARCELA; DODELSON DE KREMER, RAQUEL

PEDIATRIC RESEARCH

INT PEDIATRIC RESEARCH FOUNDATION, INC

Lugar: The Woodlands, Texas; Año: 2018

0031-3998

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. Conclusion: 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.