Keywords
hiperornitinemia-hiperamonemia- homocitrulinuria
gen ORN1
errores innatos del metabolismo
Abstract
Triple H syndrome is an autosomal recessive genetic condition characterized by urea cycle dysfunction and dysregulation of ornithine and lysine metabolism. This syndrome represents 1% to 3.8% of urea cycle disorders, being caused by pathogenic or probably pathogenic variants in the SLC25A15 gene. This gene is responsible for encoding the mitochondrial ornithine transporter 1 (ORNT1), responsible for facilitating the transport of ornithine across the mitochondrial membrane. In addition, it plays a secondary role in the synthesis of mitochondrial proteins, the metabolism of arginine, lysine and the synthesis of polyamines. Affected individuals may experience recurrent episodes of hyperammonemia, a condition that can lead to metabolic encephalopathy and in severe cases, death. A clinical case of a young patient with triple H syndrome is presented, highlighting the importance of multidisciplinary management in this chronic disabling disease.
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