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Hyperornithinemia, Hyperammonemia, and HomocitrullinuriaA New Disorder of Amino Acid Metabolism Associated With Myoclonic Seizures and Mental Retardation
Vivian E. Shih, MD;
Mary L. Efron, MD;
Hugo W. Moser, MD
Am J Dis Child. 1969;117(1):83-92.
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THE Krebs-Henseleit urea cycle is the only biochemical pathway for the conversion of ammonia to urea in man (Fig 1). It is known to involve five enzymatic reactions and, so far, four genetically determined disease states have been described, each of which is characterized by a deficiency of one of the urea cycle enzymes.1 All of these states are associated with varying degrees of hyperammonemia which, as would be expected, are most severe in the disorders of steps 1 and 2, and least severe in argininosuccinic aciduria where it usually occurs only after a protein load. The clinical picture of all these disorders includes a reluctance to eat high protein foods, intermittent ataxia, irritability, lethargy or even coma, and mental retardation. There are several instances in which a low protein diet simultaneously caused clinical improvement and reduction or elimination of hyperammonemia. For this and other reasons, it is likely
. . . [Full Text PDF of this Article]
Author Affiliations
Boston
From the Department of Neurology, Harvard Medical School, and the Joseph P. Kennedy, Jr. Memorial Laboratories, Massachusetts General Hospital, Boston.
Footnotes
Received for publication May 22, 1968.
Doctor Efron died on Sept 2, 1967.
Submitted by the authors for the Mary Efron Memorial Issue of the JOURNAL.
Reprint requests to Massachusetts General Hospital, Fruit Street, Boston 02114 (Dr. Shih).
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