A scientist at the University of the Witwatersrand would like all pregnant mothers in South Africa to be aware of the availability of tests for metabolic disorders in new-borns in South Africa.
Dr Jennifer Cartwright, from the Department of Paediatrics at the University of the Witwatersrand and the Johannesburg Hospital, says these simple tests "could save the lives of hundreds of babies who may suffer from brain damage in the short- or long-term."
Cartwright says screening within the first three days of birth is vital.
"Screening helps to prevent long-term brain damage. A metabolic disorder is generally an inherited condition in which the body is unable to produce a specific enzyme. For example, sufferers cannot easily break down proteins, sugar and fats in food nor convert them into energy."
The incidence of metabolic disorders is about 1 in 1000 in South Africa, yet a simple test which can test for over 30 metabolic disorders is readily available.
The drive to implement Tandem Mass Spectrometry (MS/MS) testing in South Africa was spearheaded by Cartwright.
"This fast, inexpensive accurate test merely involves us drawing a blood sample from a single pin prick to the baby's heel within three days of birth. The blood sample is analysed and results are available within two weeks," she says.
While brain disorders cannot be cured, they can be treated by using an effective combination of medicine and healthy eating plans.
"The earlier metabolic disorders are diagnosed, the better they can be managed," says Cartwright. "This helps to reduce the pain and suffering of the baby and the family in the long-term. It also reduces the enormous costs of looking after brain-damaged patients to communities and the government."
For more information on the MS/MS testing, or to support the project through the Wits University Foundation, please contact Dr Jennifer Cartwright on 011 488-3175/7.