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Biology Articles » Biochemistry » An insight into the biochemistry of inborn errors of metabolism for a clinical neurologist » Acute Encephalopathy

Acute Encephalopathy
- An insight into the biochemistry of inborn errors of metabolism for a clinical neurologist

Acute encephalopathy presents in a number of neurometabolic disorders, particularly in children.[5] Major inherited metabolic disorders that can cause acute encephalopathy include disorders of amino acid metabolism (maple syrup urine disease, urea cycle disorders, and nonketotic hyperglycinemia), organic acidemias, fatty acid oxidation defects and mitochondrial respiratory chain defects. Because of the importance of identifying treatable neurometabolic disorders, initial investigation of any patient presenting clinically in a stuperous or obtunded state should not be delayed. [Table 1] gives a summary of the expected results of the initial laboratory studies in various neurometabolic disorders presenting as acute encephalopathy.[3]

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