566 PROPIONICACIDEMIA PRESENTING AS HYPERAMMONEMIA
نویسندگان
چکیده
منابع مشابه
Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants.
Early-onset mitochondrial encephalomyopathy is a rare disorder that presents in the neonatal period with lactic acidosis, hypotonia, and developmental delay. Sequence variants in the nuclear-encoded gene FBXL4 have been previously demonstrated to be a cause of early-onset mitochondrial encephalomyopathy in several unrelated families. We have identified a pair of siblings with mutations in FBXL4...
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A 76 year old lady presented with altered sensorium and was found to have hyperammonemia on evaluation. She had no evidence of liver disease. For her symptomatology of backache, evaluation by bone marrow study showed evidence of multiple myeloma. She was given chemotherapy for multiple myeloma, which resulted in improvement in her sensorium, along with this there was also a rapid decline in ser...
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OBJECTIVE: The aim of this report is to describe a patient with late presentation of carbamyl phosphate synthetase I (CPS-I, EC 6.3.4.16) deficiency, a rare urea cycle deficiency, and to facilitate recognition and treatment of patients presenting with encephalopathy and hyperammonemia in a critical care setting. DESIGN: Case Report. SETTING: Intensive care unit of Saint Mary’s Hospital, Mayo Cl...
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Nutritional interventions that might influence sarcopenia, as indicated by literature reporting on sarcopenia per se as well as dynapenia and frailty, are reviewed in relation to potential physiological aetiological factors, i.e. inactivity, anabolic resistance, inflammation, acidosis and vitamin D deficiency. As sarcopenia occurs in physically active and presumably well-nourished populations, ...
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The bile salt export pump (BSEP) is located on the canalicular plasma membrane of hepatocytes and plays an important role in the biliary clearance of bile acids (BAs). Therefore, any drug or new chemical entity that inhibits BSEP has the potential to cause cholestasis and possibly liver injury. In reality, however, one must consider the complexity of the BA pool, BA enterohepatic recirculation ...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1978
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-197804001-00571