Women and children who are mildly affected can have an excellent prognosis with proper care. All female siblings of the obligate heterozygous maternal carrier are potential carriers, while male siblings may be at risk for late-onset presentation. The second reason is derived from the first. Another compelling issue in family counseling is the overwhelming sense of guilt the carrier mother must deal with. Finally, repeatedly reinforce the parents in their abilities to perceive early signs of hyperammonemia and to take immediate steps to obtain medical care.
Prenatal diagnosis is possible.
Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus. A cause of postpartum coma. Prenatal diagnosis of ornithine transcarbamylase deficiency with use of DNA polymorphisms. A test for mutations at the ornithine carbamoyltransferase locus in women. Laboratory evaluation of urea cycle disorders.