Congenital disorder of glycosylation type 1a (PMM2-CDG)
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An infant with failure to thrive has inverted nipples and abnormal fat pads. He has hypotonia, developmental delay, and strabismus. Transferrin isoelectric focusing shows an abnormal pattern.
AR; PMM2 (phosphomannomutase 2)
- Most common CDG
- Multisystem disorder
- Inverted nipples, abnormal fat pads (characteristic)
- Developmental delay, hypotonia
- Cerebellar hypoplasia
- Strabismus, retinitis pigmentosa
- Cardiomyopathy, pericardial effusion
- Coagulation abnormalities
- Strokelike episodes
- Transferrin isoelectric focusing (abnormal glycosylation pattern); genetic testing
- Supportive and multidisciplinary; no disease-specific therapy for PMM2-CDG
- Monitor and correct coagulation abnormalities (antithrombin III, factor XI) before surgery; manage thrombotic and bleeding risk
- Nutritional support for failure to thrive; surveillance for cardiac, ophthalmologic, and endocrine complications
- Physical, occupational, and developmental therapies
PMM2 is #1: PMM2-CDG is the most common CDG, just as a Prime Minister is the #1 leader.
"In CDGs, your Chest DiGs inward": inverted nipples are a characteristic finding. Also: Fat Pads and retinitis PigMentosa in PMM2.
"Cerebellum Done/Gone": cerebellar hypoplasia is a hallmark MRI finding in PMM2-CDG.