Partial ornithine transcarbamylase deficiency associated with recurrent hyperammonemia, lethargy and depressed sensorium |
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| Authors: | Jun Oizumi Won G. Ng Richard Koch Kenneth N. F. Shaw Lawrence Sweetman Antonio Velazquez George N. Donnell |
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| Affiliation: | Medical Genetics Division, Childrens Hospital of Los Angeles and the Department of Pediatrics, University of Southern California School of Medicine;Department of Pediatrics, University of California at San Diego Medical Center, U.S.A.;Unidad de Genetica de la Natricion, Instituto de Investigaiones Biomedicas, U.N.A.M., Mexico City, Mexico |
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| Abstract: | A 6-year-old boy presented with recurrent coma associated with hyperammonemia and infection is reported. A liver biopsy revealed decreased ornithine transcarbamylase (OTC) activity (16% of normal). The enzymatic abnormality in the child is supported by the finding of elevated orotic acid excretion in his mother following a protein load, compatible with an X-linked pattern of inheritance. Since initiation of a dietary arginine supplement, the child has not had recurrent episodes of hyperammonemia. |
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| Keywords: | Hyperammonemia ornithine transcarbamylase (OTC) orotic acid |
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