CUGC for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome
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منابع مشابه
The hyperornithinemia–hyperammonemia-homocitrullinuria syndrome
BACKGROUND Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive disorder of the urea cycle. HHH has a panethnic distribution, with a major prevalence in Canada, Italy and Japan. Acute clinical signs include intermittent episodes of vomiting, confusion or coma and hepatitis-like attacks. Alternatively, patients show a chronic course with aversion for pr...
متن کاملDual mechanism of brain damage induced in vivo by the major metabolites accumulating in hyperornithinemia–hyperammonemia–homocitrullinuria syndrome
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is an autosomal recessive disorder caused by a defect in the mitochondrial ornithine transporter, leading to accumulation of ornithine (Orn), homocitrulline (Hcit) and ammonia. Progressive neurological regression whose pathogenesis is not well established is common in this disease. The present work investigated the in vivo effect...
متن کاملA novel mutation in the SLC25A15 gene in a Turkish patient with HHH syndrome: Functional analysis of the mutant protein
The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome is a rare autosomal recessive disorder caused by the functional deficiency of the mitochondrial ornithine transporter 1 (ORC1). ORC1 is encoded by the SLC25A15 gene and catalyzes the transport of cytosolic ornithine into mitochondria in exchange for citrulline. Although the age of onset and the severity of the symptoms vary widely,...
متن کاملInsights into the Mutation-Induced HHH Syndrome from Modeling Human Mitochondrial Ornithine Transporter-1
Human mitochondrial ornithine transporter-1 is reported in coupling with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome, which is a rare autosomal recessive disorder. For in-depth understanding of the molecular mechanism of the disease, it is crucially important to acquire the 3D structure of human mitochondrial ornithine transporter-1. Since no such structure is availabl...
متن کاملMilder Form of Urea Cycle Defect Revisited: Report and Review of Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria (HHH) Syndrome Diagnosed in a Teenage Girl Presenting with Recurrent Encephalopathy
Dear Editor, H y p e r o r n i t h i n a e m i a h y p e r a m m o n a e m i a homocitrullinuria (HHH) syndrome (OMIM #238970) is a rare autosomal recessive disorder associated with mutations of the SLC25A15 gene which encodes the mitochondrial ornithine transporter 1 (ORNT1).1 ORNT1 is responsible for the transport of cytosolic ornithine into the mitochondria in exchange for citrulline in the ...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2020
ISSN: 1018-4813,1476-5438
DOI: 10.1038/s41431-020-0616-x