2. Academic Validation
  3. Biochemical and molecular investigations of patients with nonketotic hyperglycinemia

Biochemical and molecular investigations of patients with nonketotic hyperglycinemia

  • Mol Genet Metab. 2000 Jun;70(2):116-21. doi: 10.1006/mgme.2000.3000.
J R Toone 1,  D A Applegarth,  M B Coulter-Mackie,  E R James
Affiliations

Affiliation

  • 1 Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada.
PMID: 10873393 DOI: 10.1006/mgme.2000.3000
Abstract

The investigation of 14 unrelated patients with nonketotic hyperglycinemia led to the identification of mutations in 4 cases. Patients were initially categorized into probable P- or T-protein defects of the glycine cleavage Enzyme complex, by the use of the glycine exchange assay without supplemental H-protein, then screened for mutations in the P-protein and T-protein genes, respectively.

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