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MS
GBE1 AR unreviewed

Andersen disease (GSD IV)

Enzyme or protein defect

Glycogen branching enzyme

Accumulates or becomes deficient

Poorly branched polyglucosan

Key features

Cirrhosis, failure to thrive, early death

Management

Liver transplant

Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.

Recent literature

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