Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD): A Case of Recurrent Vomiting and Diarrhea

Abstract

Medium chain acyl-CoA dehydrogenase deficiency (MCADD) is the commonest fatty acid oxidation disorder. Patients usually presented between the ages of 4 months and 4 years with acute hypoglycaemic encephalopathy and liver dysfunction; some deteriorated rapidly and died. Symptomatic presentation of MCADD is precipitated by fasting due to infection, characterized by metabolic crisis, includes lethargy, vomiting, hypoketotic hypoglycaemia, and encephalopathy, and could progress to coma and death. MCADD is not part of new-born screening in Indonesia; children are likely to be missed if routine hypoglycaemia screening is not instituted. This is a case of an otherwise healthy 8-month-old baby boy who presented with recurrent infection followed by severe hypoglycaemia and cow’s milk protein allergy presentation with some initial diagnostic dilemma. This study was to describe the clinical manifestation, workup diagnostic, and management in children with MCADD disorder. An eight-months-old boy came with recurrent hypoglycaemia following infections. Blood gas analysis showed acidosis metabolic with increase anion gap. Patient was moderate malnutrition due to recurrent illness. There was no consanguineous in his parents. Laboratory test revealed leucocytosis, hypoglycaemia, and metabolic acidosis. No ketone on urine sample. Short chain fatty acid decrease. Ig-E total increase and benzidine test positive. Dried blood spots and urine spot by liquid chromatography-tandem mass spectrometry revealed of MCADD. Patient was given intravenous fluid containing dextrose, treated by antibiotics for infection, and recovered after few days hospitalization. Patient was also given amino-acid-based formula and he responds was good. Parent were educated for the illness and told to avoided fasting for long period. Children with MCADD should remain under follow-up with a specialist Metabolic Paediatrician Consultant and Dietician with regular reviews in early childhood. Parents should be allowed direct access to the local hospital’s paediatric service so that lengthy waits in emergency departments are avoided.