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Previous Volume 358:1408-1409 March 27, 2008 Number 13 Next

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To the Editor: Type 2 citrullinemia is an adult-onset, autosomal recessive disorder characterized by episodes of hyperammonemic encephalopathy. It is caused by mutations in the SLC25A13 gene, which encodes the liver-specific isoform of the mitochondrial aspartate–glutamate carrier (AGC2).^1,2

A 38-year-old Pakistani man with episodic confusion was found to have an elevated plasma ammonia level during an episode; citrullinemia and raised arginine, normal glutamine, and low serine levels were also noted, suggesting the diagnosis of type 2 citrullinemia. Unfortunately, despite aggressive treatment, the patient died from hyperammonemic encephalopathy.

Sequencing of the patient's SLC25A13 gene revealed homozygosity for a novel point mutation, . . . [Full Text of this Article]

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