SLC25A13 유전자분석으로 확인된 성인형 제2형 Citrullinemia

의식변화가 동반된 지속되는 고암모니아혈증을 주소로 내원하여 SLC25A13 유전자 분석에 의해 돌연변이가 확인된 성인형 제Ⅱ형 citrullinemia 1예를 경험하였기에 보고하는 바이다. Adult onset type Ⅱ citrullinemia is an autosomal recessive disorder of the amino acid metabolism caused by a deficiency of liver specific argininosuccinate synthetase activity. This disease can occur at any age in life with recurrent episodes of neurological signs and symptoms such as disorientation, abnormal behaviors (aggression, irritability and hyperactivity), seizures, coma and potential death from brain edema, which are resulted from hyperammonemia. We should consider this rare metabolic disease for the adult patient who exhibits mental change and hyperammonemia without liver or brain disease. Recently. SLC25A13 gene, encoding the mitochondrial aspartate glutamate carrier protein named citrin, is demonstrated to be responsible for adult onset type Ⅱ citrullinemia. We experienced a 39-year-old female who suffered from generalized weakness, dizziness and lethargy, and diagnosed as adult onset type Ⅱ citrullinemia by highly elevated plasma citrulline and ammonia and the SLC25A13 gene mutation. We report here on this unusual case of adult onset type Ⅱ citrullulinemia with a brief review of the related literature. (J Kor Endocrinol Soc 21:542~547, 2006)