NONKETOTIC HYPERGLYCINEMIA Clinical, Biochemical and Therapeutic Aspects
- 1 September 1979
- journal article
- case report
- Published by Wiley in Acta Paediatrica
- Vol. 68 (5) , 629-634
- https://doi.org/10.1111/j.1651-2227.1979.tb05072.x
Abstract
A patient exhibiting progressive cerebral depression from the first days of life is described. The diagnosis of nonketotic hyperglycinemia was established on the typical clinical presentation, elevated glycine concentrations in body fluids and diminished glycine cleavage activity in liver tissue. A series of therapeutic trials, including strychnine treatment, was tried on this patient without apparent effect on the clinical course.Keywords
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