Congenital disorders of glycosylation with neonatal presentation.

ABSTRACT: Congenital disorders of glycosylation (CDG) are a group of hereditary diseases characterised by deficiency of enzymes involved in proteins glycosylation. We describe the clinical case of a neonate with CDG type 1a, nowadays designated phosphomannomutase 2 (PMM2)-CDG. Physical examination showed an abnormal facies, axial hypotonia, abnormal fat distribution, inverted nipples, non-palpable testicles and arachnodactyly. Progressive multiple system organ involvement and worsening of hypertrophic cardiomyopathy occurred. Metabolic study revealed a CDG disturbance, which was confirmed by genetic study. The following mutations were identified: c.193G>T; p.D65Y and c.470T>C; p.F157S. Clinical deterioration was inevitable with multisystemic failure and death. CDG represents a challenge for physicia

SUBMITTER: Resende C 

PROVIDER: S-EPMC3992553 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature