Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH).

摘要: Abstract Screening a DNA bank from 50 patients with enzymatic confirmation of their diagnosis nonketotic hyperglycinemia gave allele frequencies 5% for R515S P-protein (glycine decarboxylase) and 7% R320H T-protein (aminomethyltransferase). In previous report we found that 3% the same patient alleles were positive IVS7−1G>A. total, testing these three mutations identified 15% results (one or two mutations) in 11 patients. addition, novel point mutation T-protein, N145I, was single case PCR/restriction enzyme assay developed its detection.