Publication:

Neural tube defect in pregnancy with hyperhomocysteinemia: a case report

The most common cause of elevated homocysteine is the C667T thermolabile mutation of the enzyme 5,10-methylene tetrahydrofolate reductase (MTHFR), inheritance is autosomal recessive. Elevated levels of homocysteine may also result from deficiency of one of several enzymes involved in methionine metabolism and from correctible nutritional deficiencies of folic acid, vitamin B6, or vitamin B12. During normal pregnancy, mean homocysteine plasma concentrations are decreased. Thus, to make a diagnosis in pregnancy, Lockwood (2002) recommends a fasting cutoff level of >12µmol/L to define hyperhomocysteinemia. Message: Indians have dietary deficiency of Vit B12 & folic acid, as most of us are vegetarians & habituated of eating cooked vegetables which is one of the reasons for high incidence of hyperhomocysteinemia. So, their diet should be rich in vt B6, B12 & folic acid.