The impaired expression of glycine decarboxylase in patients with hyperglycinemias

Biochem Biophys Res Commun. 1988 Jul 15;154(1):292-7. doi: 10.1016/0006-291x(88)90683-3.

Abstract

Glycine decarboxylase, a constituent of the glycine cleavage system, in patients with either nonketotic or ketotic hyperglycinemia (NKH and KH) was examined using an anti-chicken glycine decarboxylase antibody. Patients with NKH who have lesion in glycine decarboxylase are differentiated by its expressed level in the liver. One group is cases of the neonatal onset type who have neither activity of the enzyme nor protein reactive to the antibody. The other is a case of the late onset type who shows low but detectable activity of the enzyme and the desirable amount of the immunoreactive material. In the liver of a patient with KH not showing the appreciable activity of H-protein, ubiquitous amount of protein reactive to anti-H-protein IgG is detected and amount of glycine decarboxylase has also been lowered. It is suggested that several mechanisms may be involved in determining the expressed level of glycine decarboxylase in patients with hyperglycinemias.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amino Acid Metabolism, Inborn Errors / enzymology*
  • Amino Acid Oxidoreductases / deficiency
  • Amino Acid Oxidoreductases / metabolism*
  • Carrier Proteins / metabolism
  • Glycine / metabolism*
  • Glycine Decarboxylase Complex H-Protein
  • Glycine Dehydrogenase (Decarboxylating)
  • Humans
  • Infant, Newborn
  • Kinetics
  • Liver / enzymology*
  • Reference Values

Substances

  • Carrier Proteins
  • Glycine Decarboxylase Complex H-Protein
  • Amino Acid Oxidoreductases
  • Glycine Dehydrogenase (Decarboxylating)
  • Glycine