Endocrine Abstracts

Introduction: We describe an 11-year-old boy (N) with Medium-Chain Acyl Dehydrogenase Deficiency (MCADD) diagnosed at one year of life and type 1 IDDM diagnosed at 10 years.

History and discussion: N was diagnosed with MCADD when he was found hypoglycaemic. He was treated with the standard Emergency Regimen (a special feeding plan used if the child is unwell or not feeding well, wherein glucose polymer feeds are given frequently) and has had no further problems. When 10 years old, he presented in DKA, was diagnosed with diabetes mellitus and started on insulin therapy. The combination of MCADD and type 1 DM is extremely rare. The two conditions have major common themes: avoiding catabolism and hypoglycaemia. Avoiding catabolism is achieved in MCADD patients by giving glucose to stimulate endogenous insulin production, while in type 1 DM this is achieved by giving insulin as well. Thus at times of illness it has been advised that N should follow the Emergency Regimen but will also need closer monitoring of his insulin requirement. As N may not make as many ketones as one would expect during the times of diabetic crisis, ketonuria should be addressed urgently. Ketones may be produced as the block in fat oxidation is incomplete and also occasionally from protein breakdown. During catabolism instead of making ketones N will make a number fat metabolites some of which are neurotoxic.

Conclusions and recommendations: MCADD and type 1 Insulin dependent diabetes mellitus occurring together in the same individual is extremely rare. Management of both together revolves around good glycaemic control, while preventing catabolism.