D-glyceric-acidaemia and non-ketotic hyperglycinaemia. Clinical and laboratory findings in a new syndrome.
The clinical and laboratory findings in a 2 1/2-year-old boy with non-ketotic hyperglycinaemia are reported. Except for a somewhat impaired liver function there was a picture similar to the cases previously reported in the literature. The patient deviated from the classical description, however, in the excretion of large amounts of D-glyceric acid in the urine. The same compound was also repeatedly found in the serum. It is suggested that the large amounts of glycine found in various body fluids are secondary to a hitherto undescribed enzymatic defect in the degradation of D-glyceric acid.
D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood* / Q000652:urine; D002675:Child, Preschool; D005988:Glyceric Acids / Q000097:blood* / Q000652:urine; D005998:Glycine / Q000378:metabolism*; D006801:Humans; D008297:Male
D005988:Glyceric Acids; D005998:Glycine