Biochemical and molecular investigations of patients with nonketotic hyperglycinemia.
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.
Toone
J R
JR
Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada.
Applegarth
D A
DA
Coulter-Mackie
M B
MB
James
E R
ER
D000595:Amino Acid Sequence; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000737:chemistry; D005091:Exons; D005260:Female; D005998:Glycine / Q000378:metabolism; D050904:Homocysteine S-Methyltransferase; D006801:Humans; D020158:Hyperglycinemia, Nonketotic / Q000201:enzymology / Q000235:genetics*; D007231:Infant, Newborn; D007438:Introns; D008099:Liver / Q000201:enzymology; D008297:Male; D008780:Methyltransferases / Q000235:genetics* / Q000378:metabolism; D008969:Molecular Sequence Data; D010375:Pedigree
D017931:DNA Primers; D008780:Methyltransferases; D050904:Homocysteine S-Methyltransferase; D005998:Glycine