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ISSN 2070-8718 (Print)

2014, Number 2

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Rev Cub Gen 2014; 8 (2)

Congenital disorders due to deficiencies on the first step of the N-glycosylation pathway. Molecular basis and clinical manifestations

Acosta ST, Bermejo VAJ, Archer JJ

Language: Spanish
References: 57
Page: 4-14
PDF size: 446.92 Kb.


ABSTRACT

The congenital disorders of glycosylation (CDG) are a rapidly expanding group of metabolic syndromes with a wide symptomatology and severity. They all stem from deficient N-glycosylation of proteins. This pathway take place ein endoplasmatic reticulum and Golgi apparatus and o ccur in two stage. To date the group contains 19 different Type I (disrupted synthesis of the lipid-linked oligosaccharide precursor)). CDG-Ia is the most common subtype. Main features of CDG involve psychomotor retardation; ataxia; seizures; retinopathy; liver fibrosis; coagulopathies; failure to thrive; dysmorphic features, including inverted nipples and subcutaneous fat pads; and strabismus. No treatment currently is available for the vast majority of these syndromes (CDG-Ib is a exceptions). In this review we will discuss the individual syndromes form deficient first stage of N-glycosylation pathway.


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