J Korean Endocr Soc.  2006 Dec;21(6):542-547.

A Case of Adult Onset Type II Citrullinemia with SLC25A13 Gene Mutation

• Kim JH
• Park KW
• Park CJ
• Sun GH
• Kim HH
• Kim SY
• Bae HY
• Cho EH
• Yang SH

Abstract

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.

Keyword

Adult onset type II citrullinemia; Hyperammonemia; SLC25A13 gene mutation

MeSH Terms

Adult*
Ammonia
Argininosuccinate Synthase
Aspartic Acid
Brain Diseases
Brain Edema
Citrulline
Citrullinemia*
Coma
Dizziness
Female
Glutamic Acid
Humans
Hyperammonemia
Lethargy
Liver
Metabolic Diseases
Metabolism
Plasma
Seizures
Ammonia
Argininosuccinate Synthase
Aspartic Acid
Citrulline
Glutamic Acid

Figure

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  Fig. 1 Pedigree of the family with the neurofibromatosis.

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  Fig. 2 Serial change of plasma ammonia level (normal values 12~60 µg/dL).

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  Fig. 3 Abdomen CT (A) and brain CT (B) findings of the patient were not remarkable.

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  Fig. 4 DNA analysis of SLC25A13. A, SLC25A13 gene of patient. B, SLC25A13 gene of control. Compared to the control, 4 base sequences from 851 to 854 (GTAT) are seen to be homozygously deleted.

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