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Congenital disorder of glycosylation type Ia presenting with hydrops fetalis

J M van de Kamp, D J Lefeber, G J G Ruijter

    Journal of Medical Genetics
    |December 13, 2006
    PubMed

    Insights

    Congenital disorders of glycosylation type Ia (CDG-Ia) can cause non-immune hydrops fetalis. This severe form of CDG may present with thrombocytopenia and high ferritin levels, warranting consideration in differential diagnoses.

    Area of Science:

    • Biochemistry
    • Genetics
    • Neonatal Medicine

    Background:

    • Inborn errors of metabolism are increasingly recognized as causes of non-immune hydrops fetalis.
    • Previous associations between congenital disorders of glycosylation (CDG) and hydrops fetalis were limited, primarily to CDG-Ik.

    Observation:

    • Two unrelated patients with CDG-Ia presented with hydrops fetalis.
    • Both patients exhibited congenital thrombocytopenia and elevated ferritin levels, suggesting these may be characteristic features of severe CDG-Ia.
    • Genetic analysis revealed a severe mutation in the phosphomannomutase 2 (PMM2) gene, likely causing complete enzyme inactivation, alongside a milder mutation.

    Findings:

    • This study provides definitive evidence linking CDG-Ia to non-immune hydrops fetalis.
    • The presence of at least one severe PMM2 mutation appears crucial for the development of hydrops fetalis in CDG-Ia patients.

    Implications:

    • CDG-Ia should be included in the differential diagnosis for non-immune hydrops fetalis.
    • Prenatal diagnosis via analysis of phosphomannomutase (PMM) activity in chorionic villi or amniocytes should be considered for at-risk pregnancies.

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