MORBIDITY AND MORTALITY IN MEDIUM-CHAIN ACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY

Medium chain acyl coenzyme A dehydrogenase (MCAD) deficiency presents with episodic fasting, hypoketotic hypoglycaemia, and coma. It is know n to be potentially lethal, but the outlook for survivors is thought t o be good. We reassessed all patients with MCAD deficiency diagnosed i n New South Wales (population six million) to explore long term morbid ity and mortality. There were 16 probands and two siblings were confir med and two presumed to be affected. Assuming an incidence of 1:20 000 births, these represented about 22% of the total number of expected c ases. Five (25%) of the 20 patients died aged 3 days-30 months, all du ring the first episode of illness. Seven others had only one episode a nd one affected sibling was asymptomatic. Eight had had significant ne onatal symptoms. Only two had a significant, serious Life threatening episode after diagnosis. Of 15 survivors, one has severe handicap afte r a single severe episode, and four, aged 9-17 years, have mild intell ectual handicap. Eight (including six aged less than 7 years), have ap parently normal development. Two are lost to follow up. Our study of u nselected patients with MCAD deficiency from a defined population show s not only a substantial risk of death, but also of long term morbidit y.