| A Novel SLC25A15 Mmutation Causing Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome. |
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Kyung Mi Jang, Myung Chul Hyun, Su Kyeong Hwang |
1Department of Pediatrics, Yeungnam University School of Medicine, Daegu, Korea.
2Department of Pediatrics, Kyungpook National University School of Medicine, Daegu, Korea. skhwang@knu.ac.kr |
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| Abstract |
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Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) is a neurometabolic disorder with highly variable clinical severity ranging from mild learning disability to severe encephalopathy. Diagnosis of HHH syndrome can easily be delayed or misdiagnosed due to insidious symptoms and incomplete biochemical findings, in that case, genetic testing should be considered to confirm the diagnosis. HHH syndrome is caused by biallelic mutations of SLC25A15, which is involved in the urea cycle and the ornithine transport into mitochondria. Here we report a boy with spastic paraplegia and asymptomatic younger sister who have compound heterozygous mutations of c.535C>T (p.R179*) and c.116C>A (p.T39K) in the SLC25A15 gene. We identified that p.T39K mutation is a novel pathogenic mutation causing HHH syndrome and that p.R179*, which is prevalent in Japanese and Middle Eastern heritage, is also found in the Korean population. |
| Key Words:
HHH syndrome, Urea cycle disorders, SLC25A15, Genetics |
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