Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up

Abstract Background Congenital disorders of glycosylation (CDG) result from defects in the synthesis glycans and attachment to proteins lipids. Our study aimed describe clinical, biochemical, molecular findings CDG patients, present long-term follow-up. Material methods A single-center (1995–2019 years) patients with congenital N-glycosylation combined N- O-hypoglycosylation was performed. Results Among 32 included into study, there were 12 PMM2-CDG, 3 ALG13-CDG, ALG1-CDG, 1 ALG3-CDG, MPI-CDG, PGM1-CDG, 4 SRD5A3-CDG, DPAGT1-CDG, ATP6AP1-CDG, ATP6V0A2-CDG. The phenotypic genotypic spectrum during (in some cases over 20 observation characterised several measurements serum Tf isoforms taken. Statistical analysis revealed strong negative correlation between asialo-Tf tetrasialo-Tf, as well disialo-Tf tetrasialo-Tf. Within type I, no difference % PMM2-CDG non-PMM2-CDG patients. However, these two groups differed significantly such diagnostic features as: cerebellar ataxia, failure thrive, hypothyroidism, pericardial effusion, cardiomyopathy, inverted nipples, prolonged INR. effect treatment mannose 2 MPI-CDG assessed we found that asialo-Tf, monosialo-Tf, lowered, whereas tetrasialo-Tf pentasialo-Tf rose, coming closer or falling reference range. Conclusions novel finding an abnormal IEF pattern ALG13-CDG normal one ALG1-CDG patient. Clinical manifestation presented similar reported literature. Mannose supplementation galactose PGM1-CDG patient, improved patients’ clinical picture isoform profiles.