Endocrine Abstracts

Neonatal Diabetes Mellitus (NDM) occurs in the neonatal period and has a very high burden of morbidity and mortality. The incidence is approximately 1:100,000 but reports range from between 1 in 25,000 to 1:500,000 live births. A genetic cause can be found in over 80% of cases. At present, patients with NDM are unrecognised as being seriously ill until hyperglycaemia is at a life-threatening level. An effective method for measuring blood glucose concentrations from Guthrie card samples has been developed that could be incorporated into the current NHS National Newborn Screening (NBS) Programme to detect early hyperglycaemia on day five of life. Retrospective analysis of glucose levels on NBS cards from patients who had a subsequent genetic diagnosis of NDM revealed that the lowest glucose was 8 mmol/l - more than 6 SD above the normal range mean. When asked, parents of these children universally supported the notion of screening that may have detected the condition earlier and avoided such significant illness. Current work has started to validate an assay for glucose using NBS measuring blood glucose levels in 10,000 samples collected during routine NBS in order to determine a normal reference range for NBS samples in the UK population. For a new screening test to be considered acceptable there is a requirement to show that making the diagnosis will prevent avoidable complications or death in a cost-effective manner. As a result further work is being undertaken to evaluate cases of unexplained sudden infant death to ascertain if there are any cases that may have been due to unrecognised NDM. If glucose levels on day 5 become part of the national NBS programme a pathway will be required to ensure that timely assessment, investigation and management are undertaken in a robust and consistent way across the UK.