The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia).
Congenital disorders of glycosylation are a clinically and genetically heterogeneous group of disorders resulting from abnormal glycosylation of various glycoconjugates. The first description of congenital disorders of glycosylation was published in the early 80s and once screening tests for glycosylation disorders (CDGs) became readily available, CDG-Ia became the most frequently diagnosed CDG subtype. CDG-Ia is pan-ethnic and the spectrum of the clinical manifestations is still evolving: it spans from severe hydrops fetalis and fetal loss to a (nearly) normal phenotype. However, the most common presentation in infancy is of a multisystem disorder with central nervous system involvement.
Grünewald
Stephanie
S
Metabolic Medicine Unit, Great Ormond Street Hospital for Children NHS Trust with the UCL Institute of Child Health, London WC1N 3JH, UK. GruneS@gosh.nhs.uk
D000328:Adult; D002239:Carbohydrate Metabolism, Inborn Errors / Q000235:genetics; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D017875:Phosphotransferases (Phosphomutases) / Q000172:deficiency*
D017875:Phosphotransferases (Phosphomutases); C519582:phosphomannomutase 2, human