Recurrent acute pancreatitis in a Saudi child with isovaleric acidemia

Abstract

Isovaleric acidemia (IVA), also known as the sweaty foot syndrome, is an autosomal recessive organic acid disorder due to a defect in the mitochondrial Flavin Adenine Dinucleotide (FAD)-dependent enzyme isovaleryl CoA dehydrogenase. Acute pancreatitis as a complication has been reported. We are presenting a rare case of recurrent acute pancreatitis complicating a 9-year-old girl with IVA. She presented with repeated attacks of vomiting, severe abdominal pain, and fever since the age of 18 months. These were diagnosed as attacks of pancreatitis with high serum amylase presenting clinically as diabetic ketoacidosis. Later, she developed chronic pancreatitis which is proved by lapratomy. In the last attack, she was comatosed with fulminant sepsis and sooner the patient died. Blood sample taken during this last attack confirmed the diagnosis of IVA. An inborn error of organic acid metabolism should be considered in children with pancreatitis of unknown origin.