Oizumi J, Ng W G, Koch R, Shaw K N, Sweetman L, Velazquez A, Donnell G N
Clin Genet. 1984 Jun;25(6):538-42. doi: 10.1111/j.1399-0004.1984.tb00498.x.
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.
