Abstract
A novel splice site mutation (IVS7-1G-->A) in the T-protein gene (aminomethyltransferase, or AMT) of the glycine cleavage enzyme complex was found in a patient with nonketotic hyperglycinemia (NKH). A PCR/restriction enzyme method to detect this mutation was used to screen 100 NKH alleles and identified the mutation in three unrelated families.
Copyright 2001 Wiley-Liss, Inc.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Amino Acid Oxidoreductases / genetics*
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Aminomethyltransferase
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Carrier Proteins / genetics*
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Genetic Carrier Screening
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Humans
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Hydroxymethyl and Formyl Transferases / genetics*
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Hyperglycinemia, Nonketotic / enzymology
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Hyperglycinemia, Nonketotic / genetics*
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Introns / genetics
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Multienzyme Complexes / genetics*
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Mutation / genetics*
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Polymerase Chain Reaction
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RNA Splice Sites / genetics*
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Transferases / genetics*
Substances
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Carrier Proteins
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Multienzyme Complexes
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RNA Splice Sites
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glycine cleavage system
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Amino Acid Oxidoreductases
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Transferases
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Hydroxymethyl and Formyl Transferases
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Aminomethyltransferase