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Manchester genetics team finds vitamin link to childhood health problems

A group of Manchester genetic medicine researchers and doctors have identified a completely new inherited childhood disorder that can be treated with a form of vitamin, helping to prevent anaemia and epilepsy.

The condition is caused by an inherited change in an important enzyme called dihydrofolate reductase (DHFR).  DHFR plays a significant role in how the body handles certain vitamins called folates.  When the body is lacking DHFR, children can develop serious health problems including anaemia and epilepsy.

The identification of the specific genetic change has lead to treatment of this condition with a form of the folate vitamin.  It is likely that there are many other children with this condition, which has been previously unrecognised.  They could now benefit from a clear diagnosis and rapid treatment.

The research team brings together experts from the Biomedical Research Centre and The University of Manchester.  Its findings have just been published in the prestigious American Journal of Human Genetics.

Dr Siddharth Banka, funded by a three-year £185,000 Biomedical Research Centre Fellowship, led the research study, working closely with Dr Bill Newman and Dr Simon Jones.  He believes the findings may also have exciting implications in improving our understanding of a range of other diseases like Alzheimer's and depression.

"In addition, many anti-cancer drugs work by blocking DHFR in cancers such as leukaemia.  We hope that our discovery will lead to a better understanding of this enzyme and result in improving cancer treatments" said Dr Banka.