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MPDU1-sEDD-CDG

Previously: Congenital disorder of glycosylation, type If (CDG1F)

sEDD Gene: MPDU1 AR

Onset: Birth

Pathway: Glycosylation

Category Paper: sEDD Paper

Key Clinical Clues

Erythroderma, skin thickening, scaling; neurological features.

Additional Cutaneous Features

Scaling with variable thickening and patchy desquamation; sometimes erythrodermic.

Additional Extracutaneous Features

Failure to thrive, ocular anomalies, contractures microcephaly, hypotonia, delayed psychomotor development, ataxia, seizures.

References

Schenk B, Imbach T, Frank CG et al. MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If. J Clin Invest 2001; 108:1687-95.

Summarised from published literature for general information. This is not medical advice, and entries are still being verified. Read the full disclaimer