Hyperornithinemia-Hyperammonemia- Homocitrullinuria Syndrome: Low Creatine Excretion and Effect of Citrulline, Arginine, or Ornithine Supplement
نویسندگان
چکیده
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 کامل5 Arginine , Citrulline , and Ornithine
Metabolism as well as function of the three amino acids, L-arginine, L-citrulline, and Lornithine, are closely intertwined and related to the homeostasis of nitric oxide at the tissue and cellular levels. For the three compounds data on neural tissue and CSF levels are summarized and localization in brain mainly derived from immunohistochemical experiments is reported. A complex pattern of diff...
متن کاملIdentification and Properties of Glycated Monoclonal
concentrated enzyme extracts with higher specific activities. By performing the assay in the presence of various concentrations of ornithine, we confirmed that AGAT is inhibited by ornithine, as reported previously (7 ). This observation may be of clinical interest in conditions of hyperornithinemia. Decreased brain creatine has been observed in patients affected with gyrate atrophy of the chor...
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,...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1987
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-198709000-00025