S3312 Acute Decompensation of Late-Onset Glutaric Acidemia Type II in the Setting of Multifactorial Cirrhosis

Abstract

Introduction: Glutaric acidemia type 2 (GA2), or multiple acyl CoA dehydrogenase deficiency (MADD), is a disorder of fatty acid oxidation, amino acid and choline metabolism. GA2 is inherited in an autosomal recessive manner by changes in the ETFA, ETFB, or ETFDH genes. The classic and most severe form of GA2 is neonatal onset. Our patient has symptoms of late onset disease, including fatigue, vomiting, episodic hyperammonemia, fatty infiltration of the liver, and an absence of congenital malformations. In acute decompensations, triggered by catabolism and/or intercurrent illness, individuals with GA2 may develop metabolic acidosis, rhabdomyolysis, elevation of transaminases, and hyperammonemia. Case Description/Methods: This case describes a 36-year-old gentleman with late onset glutaric acidemia type II, multifactorial cirrhosis from non-alcoholic steatohepatitis in the setting of a metabolic disorder, class III obesity, alcoholic associated liver disease, portal hypertension, splenic embolization, CHF, presented to the ED for confusion following progressive nausea and vomiting over five days, and was found to have elevated ammonia level at 165 mcmol/L. His vital signs were tachycardia of 133 bpm, hypertension of 221/133, he was afebrile in no respiratory distress. Physical exam was notable for a drowsy obese male oriented to self and place, diaphoretic, tachycardic, no JVD, no crackles, non-tender abdomen with normoactive bowel sounds, and asterixis. Initial lab studies were significant for platelets of 131k, potassium of 2.4 mmol/L, total bilirubin 3.7 mg/dL, AST 355 ALT 130 ALP 143 IU/L, and no detectable ethanol, acetaminophen or salicylates. Multiple factors can influence his ammonia level, including underlying cirrhosis and glutaric acidemia. His metabolic crisis was suspected due to a catabolic state from intake of high-protein diet, and was managed with 10% Dextrose IV fluids, levocarnitine, riboflavin, lactulose, low-protein low-fat diet with improvement in encephalopathy. Hypokalemia from decreased absorption and lactulose use resolved with potassium supplements and addition of spironolactone. Discussion: Metabolic disorders are rare but important to consider in patients that present with metabolic crisis. They can decompensate after periods of dehydration, exercise, alcohol ingestion or illnesses and develop hyperammonemia, transaminitis, metabolic acidosis. These individuals have a lifelong risk of intermittent episodes of metabolic crisis and prompt management is imperative to recovery.