Late-onset nonketotic hyperglycinemia and spinocerebellar degeneration.
Investigation of a 15-year old boy with progressive optic atrophy and spinocerebellar degeneration revealed elevated plasma, cerebrospinal fluid, and urine glycine concentrations. During an oral glycine loading test, the patient's plasma glycine concentration rose to a higher level than control values, although the initial rate of rise was slower; there was no concomitant rise in the plasma serine concentration. An oral serine loading test resulted in a prompt rise of both glycine and serine serum concentrations. The renal glycine clearance was elevated, and the renal tubular glycine reabsorption was diminished. These findings of decreased intestinal uptake and increased renal tubular glycine clearance suggest that a generalized derangement of glycine entry into cells may account for the phenotypic manifestations of the disorder.
D000293:Adolescent; D004200:Diseases in Twins; D005998:Glycine / Q000097:blood* / Q000378:metabolism; D006801:Humans; D008297:Male; D009422:Nervous System Diseases / Q000209:etiology*; D009896:Optic Atrophy / Q000209:etiology; D012694:Serine / Q000378:metabolism
D012694:Serine; D005998:Glycine