منابع مشابه
Hyperammonemia in the ICU.
Patients experiencing acute elevations of ammonia present to the ICU with encephalopathy, which may progress quickly to cerebral herniation. Patient survival requires immediate treatment of intracerebral hypertension and the reduction of ammonia levels. When hyperammonemia is not thought to be the result of liver failure, treatment for an occult disorder of metabolism must begin prior to the co...
متن کاملEndocrine manifestations related to inherited metabolic diseases in adults
Most inborn errors of metabolism (IEM) are recessive, genetically transmitted diseases and are classified into 3 main groups according to their mechanisms: cellular intoxication, energy deficiency, and defects of complex molecules. They can be associated with endocrine manifestations, which may be complications from a previously diagnosed IEM of childhood onset. More rarely, endocrinopathies ca...
متن کاملMitochondrial dysfunction in acute hyperammonemia.
Acute hyperammonemia resulting from congenital urea cycle disorders, Reye syndrome or acute liver failure results in severe neuronal dysfunction, seizures and death. Increasing evidence suggests that acute hyperammonemia results in alterations of mitochondrial and cellular energy function resulting from ammonia-induced inhibition of the tricarboxylic acid cycle enzyme alpha-ketoglutarate dehydr...
متن کاملHypoglycaemia related to inherited metabolic diseases in adults
In non-diabetic adult patients, hypoglycaemia may be related to drugs, critical illness, cortisol or glucagon insufficiency, non-islet cell tumour, insulinoma, or it may be surreptitious. Nevertheless, some hypoglycaemic episodes remain unexplained, and inborn errors of metabolism (IEM) should be considered, particularly in cases of multisystemic involvement. In children, IEM are considered a d...
متن کامل'Inherited Metabolic Disease in Adults: A Clinical Guide'.
: Inherited Metabolic Disease in Adults: A Clinical Guide (Oxford Monographs on Medical Genetics) ISBN : #0199972133 | Date : 2016-08-16 Description : PDF-57425 | As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently...
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ژورنال
عنوان ژورنال: Kanzo
سال: 1977
ISSN: 0451-4203,1881-3593
DOI: 10.2957/kanzo.18.856