ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Endocrine Abstracts (2008) 16 P120

A Korean adult-onset type II citrullinemia with confirmed SLC25A13 mutation: a case report

Sang-Yong Kim, Hak-Yeon Bae & Jin-Hwa Kim

Chosun University Hospital, Gwang-Ju, Republic of Korea.

Adult-onset type II citrul this rare metabolic disease for the adult patient who exhibits mental changes and hyperammonemia without liver or brain diseases. Recently, the SLC25A13 gene, which encodes the mitochondrial aspartate glutamate carrier protein named citrin, is demonstrated to be responsible for adult-onset type II citrullinemia. While there have been multiple cases reported in the Japanese population, there is no report of adult-onset type II citrullinemia with confirmed SLC25A13 linemia is an autosomal recessive disorder of the amino acid metabolism caused by a deficiency of liver-specific argininosuccinate synthetase activity. This disease may occur at any stage in life with recurrent episodes consisting of neurological signs and symptoms such as disorientation, abnormal behavior (aggression, irritability, and hyperactivity), seizure, coma, and potential death from brain edema, which result from hyperammonemia. It should be considered that mutation in Korea. However, we experienced a 39-year-old female who suffered from generalized weakness, dizziness, and lethargy and was diagnosed with adult-onset type II citrullinemia based on highly elevated plasma citrulline and ammonia and the SLC25A13 gene mutation.

Thus, it is reported the first case of adult-onset type II citrullulinemia with confirmed SLC25A13 mutation in Korea with a brief review of the related literature.

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