A CASE WITH HYPERORNITHINEMIA, HYPERAMMONEMIA AND HOMOCITRULLINURIA
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 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 کاملTransient Hyperammonemia of the Newborn: A Case Study
Background: Transient hyperammonemia of the newborn (THAN) is an overwhelming condition presenting with coma within 2-3 days of life and requiring immediate treatment. The etiology of this condition remains unknown. Duration of coma determines the degree of neurologic impairment and developmental delay in hyperammonemia. Case report: A newborn (BW=2900 g) was presented with a clear prenatal an...
متن کاملA Case of Hyperammonemia Associated with High Dihydropyrimidine Dehydrogenase Activity
Over the past decades, 5-Fluorouracil (5-FU) has been widely used to treat several types of carcinoma, including esophageal squamous cell carcinoma. In addition to its common side effects, including diarrhea, mucositis, neutropenia, and anemia, 5-FU treatment has also been reported to cause hyperammonemia. However, the exact mechanism responsible for 5-FU-induced hyperammonemia remains unknown....
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ژورنال
عنوان ژورنال: Nihon Naika Gakkai Zasshi
سال: 1981
ISSN: 0021-5384,1883-2083
DOI: 10.2169/naika.70.1714