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.
Copyright 2000 Academic Press.
Publication types
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Comparative Study
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Research Support, Non-U.S. Gov't
MeSH terms
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Amino Acid Sequence
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DNA Mutational Analysis*
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DNA Primers / chemistry
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Exons
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Female
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Glycine / metabolism
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Homocysteine S-Methyltransferase
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Humans
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Hyperglycinemia, Nonketotic / enzymology
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Hyperglycinemia, Nonketotic / genetics*
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Infant, Newborn
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Introns
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Liver / enzymology
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Male
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Methyltransferases / genetics*
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Methyltransferases / metabolism
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Molecular Sequence Data
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Pedigree
Substances
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DNA Primers
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Methyltransferases
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Homocysteine S-Methyltransferase
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Glycine