title: Nonketotic hyperglycinemia. Clinical, biochemical and therapeutic aspects.
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.
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000188:drug therapy / Q000378:metabolism / Q000473:pathology; D000596:Amino Acids / Q000097:blood / Q000652:urine; D005998:Glycine / Q000378:metabolism*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013331:Strychnine / Q000627:therapeutic use
chemical_list: D000596:Amino Acids; D013331:Strychnine; D005998:Glycine