Citrullinemia refers to a family of autosomal recessive disorders involving the urea cycle. Three forms exist, which have different implications. Type I citrullinemia exists in both mild and severe forms. It arises due to mutations with argininosuccinate synthase leading to accumulation of ammonia and producing symptoms of lethargy, poor feeding, and seizures. Type II citrullinemia occurs due to citrin mutations involved in the urea cycle transport or during neonatal cholestasis. Management of both conditions requires low-protein diets along with arginine, sodium benzoate, and sodium phenylacetate. While traditional treatment shows improved outcomes, modifications may be necessary depending on a patient's presentation. We present a unique case of a 19-year-old wheelchair-bound female with a past medical history of heterozygous type I citrullinemia, seizures, and chronic encephalopathy presented to a local children's hospital for evaluation of altered mental status with a lethargic mental state. She was initially found to have an ammonia level of 329 µmol/L and choledocholithiasis on admission. Dietary modification with intravenous dextrose and intralipids with oral lactulose saw improvement in her labs. However, her ammonia level increased to 381 µmol/L despite such interventions. Intensive care was required to normalize her serum ammonia level and clear her for a magnetic resonance cholangiopancreatography (MRCP). We present a unique case of heterozygous type I citrullinemia with some overlap with type II citrullinemia features. Further studies are needed to understand better the observed unique presentation and long-term clinical implications associated with the disease.
Keywords: choledocholithiasis; encephalomegaly; heterozygous gene mutation; seizure; type i citrullinemia.
Copyright © 2021, Ruxmohan et al.