Hypoglycemic coma in a young girl: first case of medium chain Acyl-Co Dehydrogenase [MCAD] deficiency identified in Kuwait

ABSTRACT

Medium-chain acyl CoA dehydrogenase [MCAD] deficiency is the commonest inborn error of fatty acid oxidation. Affected children usually present within the first two years of life with re c u r rent episodes of hypoketotic hypoglycemia and lethargy with high risk of mortality and morbidity. We describe a two-year old girl who presented with hypoglycemic hypoketotic coma due to MCAD and we describe the investigative work-up that led to the diagnosis. Our aim is to increase awareness of this disorder and to emphasize the need for prompt diagnosis and management. This is the first case of MCAD deficiency identified in Kuwait and we believe that this condition may be under-diagnosed