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J Clin Gastroenterol. 2006 Aug;40(7):596-601.

Celiac sprue, hyperhomocysteinemia, and MTHFR gene variants.

Author information

1
Department of Medicine, Division of Gastroenterology, Maine Medical Center, 22 Bramhall Street, Portland, ME 04102, USA. gwilcox1@maine.rr.com

Abstract

GOALS:

To describe the association of untreated celiac disease with hyperhomocysteinemia and variants of the methylenetetrahydrofolicacid reductase (MTHFR) gene found in clinical practice.

STUDY:

Case studies with description of associated clinical, biochemical, and genetic findings and review of literature.

RESULTS:

Five new cases and 7 additional cases found from literature search of hyperhomocysteinemia with celiac sprue are reported. Treatment with gluten-free diet and folic acid led to the variable improvement in homocysteine levels. MTHFR gene variants were present in the each of the new patients described.

CONCLUSIONS:

Untreated celiac disease may be associated with hyperhomocysteinemia caused by a combination of vitamin deficiencies and variants in the MTHFR gene. Abnormalities do not consistently improve with gluten-free diet. The abnormal findings could result from vitamin deficiencies or variant MTHFR status. Possible clinical implications for patients with celiac disease and hyperhomocysteinemia are reviewed.

PMID:
16917400
[Indexed for MEDLINE]
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