The Authors report on a 2 year old boy who showed an episode of hyperammoniemic coma. Clinical and biochemical data were suggestive of a late-onset OCT deficiency. The paper stress the importance of a timely diagnosis in this life-threatening disease. The main therapeutic suggestions of acute and chronic stages of the disease, and the diagnostic tools are outlined.

Hyperammoniemic coma in patient affected by ornithine-transcarbamylase deficiency

Fiumara A.;Barone R.;
1994-01-01

Abstract

The Authors report on a 2 year old boy who showed an episode of hyperammoniemic coma. Clinical and biochemical data were suggestive of a late-onset OCT deficiency. The paper stress the importance of a timely diagnosis in this life-threatening disease. The main therapeutic suggestions of acute and chronic stages of the disease, and the diagnostic tools are outlined.
1994
hyperammoniemia
ornithine
transcarbamylase deficiency
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.11769/633572
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