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Partial ornithine transcarbamylase deficiency associated with recurrent hyperammonemia, lethargy and depressed sensorium
Author(s) -
Oizumi Jun,
Ng Won G.,
Koch Richard,
Shaw Kenneth N. F.,
Sweetman Lawrence,
Velazquez Antonio,
Donnell George N.
Publication year - 1984
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1984.tb00498.x
Subject(s) - hyperammonemia , ornithine transcarbamylase deficiency , ornithine transcarbamylase , ornithine carbamoyltransferase , lethargy , medicine , endocrinology , orotic acid , abnormality , urea cycle , coma (optics) , arginine , liver biopsy , excretion , citrulline , ornithine , biology , biopsy , biochemistry , amino acid , psychiatry , physics , optics
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.