ABSTRACT 693

Abstract

Background and aims: Glutaric aciduria type II, also known as multiple acyl coenzyme A dehydrogenase deficiency is a rare metabolic disease that is inherited in an autosomal recessive manner. The disorder is caused by a defect in the mitochondrial electron transfer flavoprotein or the electron transfer flavoprotein dehydrogenase. The severity of clinical symptoms and the disease varies. The patients present with hypotonia, hypoglycemia and metabolic acidosis, proximal myopathy and recurring vomiting episodes along with hypoglycemia. Characteristically, sweaty foot odor urine is recognized. Here we report an infant with glutaric aciduria type 2. Methods: Case: A 4-month-old boy was admitted with vomiting and alteration of consciousness, whose parents were consanguinity. He had a GCS of 6/15 and hepatomegaly. He was intubated because of respiratory failure. He needed mechanical ventilation for twenty days. Metabolic disease was suspected based on increased levels of serum lactate, ammonia and transaminases and hypoketotic hypoglycemia. Tandem MS revealed low levels of free carnitine. The level of 2-OH glutaric acid was determined as being 6-fold high in the urine. Glutaric aciduria type 2 was diagnosed based on these clinical findings and laboratory results. He improved with the treatment of carnitin, riboflavin and supportive fluid and formula. Conclusions: Glutaric aciduria type 2 is a rare metabolic disease that typically presents with hepatomegaly secondary to glyogen accumulation, severe failure to thrive, macrocephaly and metabolic acidosis. When acute onset of vomiting and alteration of consciouness develop in a patient, inborn error of metabolism disease should be considered.