The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia) - ScienceDirect

The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia) - ScienceDirect

Review

The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia)

Author links open overlay panelStephanieGrünewald

https://doi.org/10.1016/j.bbadis.2009.01.003Get rights and content

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Abstract

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.

Abbreviations

AT III

Antithrombin III

CDG

Congenital disorders of glycosylation

CDG-Ia

Congenital disorders of glycosylation type Ia

CDT

Carbohydrate-deficient transferrin

ER

Endoplasmatic reticulum

Glc

Glucose

GlcNAc

N-acetylglucosamine

IEF

Isoelectric focusing

LLO

Lipid linked oligosaccharide

PMM

Phosphomannomutase

PMM1

Isoenzyme 1 of Phosphomannomutase

PMM2

Isoenzyme 2 of Phosphomannomutase

Keywords

Congenital disorders of glycosylation (CDG)

CDG-Ia

Phosphomannomutase (PMM) deficiency

PMM2 deficiency

Jaeken's syndrome