ContentsSynopsisCodesDifferential Diagnosis & PitfallsBest TestsReferences
Congenital disorder of glycosylation
Other Resources UpToDate PubMed

Congenital disorder of glycosylation

Contributors: Marilyn Augustine MD
Other Resources UpToDate PubMed

Synopsis

A group of rare genetic disorders of carbohydrate metabolism characterized by neurologic dysfunction; often affects other organ systems. Genetically and phenotypically diverse. Classified as disorders of N-glycosylation and O-glycosylation. The most common type is phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG, CDG-1a), a disorder of N-glycosylation. This type has varied presentations and degrees of severity. Infants may present with ataxia, developmental delay, failure to thrive, and strabismus. Other symptoms include hyporeflexia, esotropia, axial hypotonia, poor feeding, vomiting, growth retardation, retinitis pigmentosa, and cerebellar hypoplasia. Childhood findings include intellectual disability and the inability to walk. Adolescent and adult patients present with neuromuscular and skeletal abnormalities and impaired sexual development (females).

Management is focused on treating symptoms, providing supportive services and devices, and monitoring to prevent complications.

For more information on PMM2-CDG, see OMIM.

Codes

ICD10CM:
E74.8 – Other specified disorders of carbohydrate metabolism

SNOMEDCT:
459063003  – Congenital disorder of glycosylation type Ia

Differential Diagnosis & Pitfalls

Referral to medical geneticist may be helpful in differentiating congenital disorders of glycosylation from other conditions.

Best Tests

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References

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Last Updated:03/29/2017
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Congenital disorder of glycosylation
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Congenital disorder of glycosylation : Ataxia, Failure to thrive, Strabismus
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