Pediatric neurology
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Pediatric neurology · Jan 1986
Case ReportsUnusual biochemical and clinical features in a girl with ornithine transcarbamylase deficiency.
A girl, ultimately diagnosed as having profound ornithine transcarbamylase (OTC) deficiency, presented as a neonate with feeding intolerance, irritability, and seizures without concurrent hyperammonemia. Developing normally until ten months of age, the girl subsequently experienced two episodes of hyperammonemia, which were associated with focal seizures and residual hemiparesis. ⋯ Symptomatic OTC deficiency has not been previously reported unassociated with hyperammonemia. The recurrent cerebrovascular episodes are distinctly uncommon in patients with urea cycle enzymopathies.
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Lactic acidosis accompanies many acquired and inherited metabolic diseases. The role of lactic acid in anaerobic glycolysis, gluconeogenesis, and acid-base balance is key to the understanding of these disorders. Because lactic acid can be formed only from pyruvic acid, disorders which increase pyruvate production, inhibit its catabolism, or shift the equilibrium toward lactic acid formation cause lactic acidosis. ⋯ Abnormalities of other metabolites such as glucose, pyruvate, amino acids, and organic acids may provide clues to inborn metabolic errors. Treatment must first be directed toward removing precipitating causes of the acquired disorders and then toward correcting the acidosis and other metabolic complications such as hypoglycemia. Some of the inborn errors respond to specific therapies.