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5 Possible Causes for Mutation in the Glycine Dehydrogenase Gene

  • Nonketotic Hyperglycinemia

    They have identified more than a dozen gene mutations in the AMT and more than 40 mutations in the GLDC gene in affected individuals.[ivami.com] Most of these genetic changes alter the amino acids in the aminomethyltransferase and glycine dehydrogenase.[ivami.com] The most frequent mutation in the gene GLDC changes the amino acid serine to isoleucine at amino acid position 564 in the enzyme (Ser564Ile or S564I).[ivami.com]

  • Atypical Glycine Encephalopathy

    They have identified more than a dozen gene mutations in the AMT and more than 40 mutations in the GLDC gene in affected individuals.[ivami.com] Defects in three of these four genes have been linked to glycine encephalopathy. [1] : 790 Gene Name Percent GLDC encodes the "glycine dehydrogenase" subunit, also called[en.wikipedia.org] Most of these genetic changes alter the amino acids in the aminomethyltransferase and glycine dehydrogenase.[ivami.com]

  • Sarcosinemia

    Sarcosinemia is thought to be caused by a mutation in the sarcosine dehydrogenase (SARDH) gene, which is located at human chromosome 9q34.The disease is inherited in an autosomal[en.wikipedia.org] Using the "candidate gene approach" we sequenced the gene encoding sarcosine dehydrogenase (SARDH), which plays an important role in the conversion of sarcosine to glycine[ncbi.nlm.nih.gov] Sarcosinemia is thought to be caused by a mutation in the sarcosine dehydrogenase gene.[medigoo.com]

  • Autosomal Recessive Myopia 18

    […] in the gene encoding phosphoglycerate dehydrogenase on chromosome 1p12.[smpdb.ca] Defects in the gene lead to a decrease of Glycine and Serine.[smpdb.ca]

  • Autosomal Recessive Mental Retardation 27

    Sarcosinemia is thought to be caused by a mutation in the sarcosine dehydrogenase gene.[medigoo.com] Sarcosine (N-methylglycine) is enzymatically formed from dimethylglycine by dimethylglycine dehydrogenase and converted to glycine by sarcosine dehydrogenase (SARDH).[medigoo.com]

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