Abstract
We describe clinical, biochemical, and molecular findings in a 2(1/2)-year-old girl with a phosphomannose isomerase deficiency who presented with severe and persistent hypoglycemia and subsequently developed protein-losing enteropathy, liver disease, and coagulopathy. Six months of therapy with mannose supplementation resulted in clinical improvement and partial correction of biochemical abnormalities.
Publication types
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Case Reports
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Child, Preschool
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Congenital Disorders of Glycosylation / diagnosis*
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Congenital Disorders of Glycosylation / diet therapy
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Congenital Disorders of Glycosylation / genetics
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Congenital Disorders of Glycosylation / metabolism
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Dietary Supplements
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Female
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Humans
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Hypoglycemia / etiology*
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Hypoglycemia / metabolism
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Mannose / therapeutic use
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Point Mutation
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Sequence Analysis, DNA