Emergency management of inherited XXXX .

@entity1522 @entity3265 @entity146 @entity16623 @entity14992 @entity520 @entity880 @entity74 @entity209 @entity413
Inherited @entity209 with acute severe manifestations can be divided into five categories: (1) disorders of the intoxication type, (2) disorders with @entity146 , (3) disorders with disturbed energy metabolism, (4) disorders of neurotransmission and (5) disorders in which no specific emergency treatment is available. Diagnostic emergency laboratory evaluation should cover all differential diagnoses that are therapeutically relevant and should always include @entity3265 , @entity413 , @entity880 and acid-base status as well as testing the urine for @entity16623 . These are indispensable for planning and conducting the first steps of metabolic emergency treatment and should be available within 30 min. According to the clinical situation and biochemical derangement, special metabolic investigations must be initiated in parallel. These include @entity14992 profiling with tandem mass spectrometry (in plasma or dried blood spots) and analysis of @entity1522 in plasma and of organic acids in urine. The results of all laboratory investigations relevant to the diagnosis of @entity209 for which specific emergency therapy exists should be available within 24 h. There is general agreement with regard to some therapeutic strategies that are clearly explained by pathophysiology: in disorders with endogenous intoxication, anabolism must be promoted and specific detoxification measures initiated. In disorders with @entity146 , administration of @entity413 at the rate of hepatic @entity413 production forms the basis of treatment. Correction of @entity520 is a major @entity74 with disturbed mitochondrial energy metabolism, while @entity413 supply may have to be limited. Many current therapeutic strategies are based on case reports and personal experiences at different metabolic centres. The aim of devising the 'best' management is often hampered by the lack of objective evidence of efficacy.
