Glutaric acidemia type 2 presenting as a surgical acute abdomen: a case of unnecessary exploratory laparotomy in an adult

Abstract

Glutaric acidemia type 2 (GA2), also known as multiple acyl-CoA dehydrogenase deficiency (MADD), is a rare inherited disorder of mitochondrial energy metabolism in which catabolic stress may precipitate severe metabolic decompensation. We report a 25-year-old man with childhood-diagnosed GA2/MADD who had been outside metabolic follow-up and untreated for approximately 21 years. Following a dental abscess and tooth extraction, his oral intake was markedly reduced for approximately one week. He presented with abdominal pain, vomiting, progressive abdominal distension, profound hypoglycemia, and severe high-anion-gap metabolic/lactic acidosis. An outside-hospital computed tomography scan raised concern for a possible defect in gastric antral/pyloric wall integrity, although the examination was suboptimal because oral contrast could not be administered. In the setting of hemodynamic instability, marked abdominal findings, and a presumed gastrointestinal perforation, emergency exploratory laparotomy was performed; no perforation or other intra-abdominal pathology was identified. Postoperatively, persistent life-threatening metabolic acidosis, circulatory failure, and recurrent hypoglycemia prompted intensive care management with continuous veno-venous hemodiafiltration, intravenous glucose, riboflavin, levocarnitine, and nutritional therapy aimed at reversing catabolism. Clinical and biochemical abnormalities resolved rapidly. During nine months of follow-up, the patient remained under endocrinology and metabolic disease care with dietary management, experienced no recurrent metabolic crisis, and required no further renal replacement therapy. This case highlights hypoketotic hypoglycemia in association with severe metabolic acidosis as an important diagnostic clue to metabolic decompensation and illustrates how MADD may closely resemble a surgical acute abdomen.