Useful Info
Acute Encephalopathy   

Acute encephalopathy presents in a number of neurometabolic disorders, particularly in children. 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.

SOURCE. 2327;year=2008;volume=11;issue=2;spage=68;epage=81;aulast=Christopher


Several inborn errors of metabolism are characterized by a metabolic acidosis in which the major
anionic species is lactate. The lactic acid that circulates in the human body is a product of the
anaerobic metabolism of glucose that occurs primarily in the red cells, in kidney medulla and white
skeletal muscle. Some of the lactate is oxidized by red muscle and the kidney cortex, but the bulk
of it is taken up by the liver and converted to glucose or oxidized.
The only metabolic reaction which produces lactate is the NADH2-dependent reduction of pyruvate
which is catalyzed by lactate dehydrogenase, and lactate is always removed by a reversal of this
reaction. Therefore, any condition which results in the accumulation of pyruvate may lead to
inadequate removal of both pyruvate and lactate from the circulation with consequent lactic


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