[Hyperhomocysteinaemia in a coeliac disease heterozygote for the two common mutations (677C->T and 1298A->C) of the methylenetetrahydrofolate reductase gene. Case report].
A 17 year old girl with coeliac disease was found to have hyperhomocysteinaemia (fasting plasma total homocysteine concentration - 19.93 micromol/L; N<12.75 micromol/L). At the age of 1 5 she gave up gluten-free diet and had only subtle signs of chronic malabsorption such as folic acid and iron deficiency. The patient was heterozygote for both common mutations (677C->T and J298A->C) of the methylenetetrahydrofolate reductase gene. On gluten diet an intake of 5 mg folic acid/d from supplements for two weeks resulted in an increase in serum folate and a reduction in homocysteine concentration (13.20 micromol/L). The patient continued to consume a gluten containing diet and 0.5mg folic acid/d from supplements for 4 months and homocysteiene decreased to 12.1 mmol/L. Hyperhomocysteinaemia - a cardiovascular and obstetrical risk factor - might be a significant problem for patients with celiac disease on gluten-containing diet.
Hozyasz
Kamil
K
Klinika Pediatrii, Instytut Matki i Dziecka, Kasprzaka 17a, 01-211 Warszawa, Poland. khozyasz@alpha.net.pl
Milanowski
Andrzej
A
D000293:Adolescent; D000409:Alanine / Q000235:genetics; D002446:Celiac Disease / Q000150:complications / Q000178:diet therapy / Q000201:enzymology* / Q000235:genetics*; D003545:Cysteine / Q000235:genetics; D005260:Female; D005492:Folic Acid / Q000627:therapeutic use; D005494:Folic Acid Deficiency / Q000097:blood; D006397:Hematinics / Q000627:therapeutic use; D006579:Heterozygote; D006710:Homocysteine / Q000097:blood; D006801:Humans; D020138:Hyperhomocysteinemia / Q000201:enzymology* / Q000235:genetics*; D000090463:Iron Deficiencies; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D009154:Mutation; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*; D012307:Risk Factors; D013912:Threonine / Q000235:genetics; D013997:Time Factors; D016896:Treatment Outcome
D006397:Hematinics; D006710:Homocysteine; D013912:Threonine; D005492:Folic Acid; D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D003545:Cysteine; D000409:Alanine