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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
1996-7-25
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pubmed:databankReference |
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pubmed:abstractText |
In two children with an accumulation of guanidinoacetate in brain and a deficiency of creatine in blood, a severe deficiency of guanidinoacetate methyltransferase (GAMT) activity was detected in the liver. Two mutant GAMT alleles were identified that carried a single base substitution within a 5' splice site or a 13-nt insertion and gave rise to four mutant transcripts. Three of the transcripts encode truncated polypeptides that lack a residue known to be critical for catalytic activity of GAMT. Deficiency of GAMT is the first inborn error of creatine metabolism. It causes a severe developmental delay and extrapyramidal symptoms in early infancy and is treatable by oral substitution with creatine.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/8651275-1128236,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8651275-13192118,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8651275-14907713,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8651275-2829129,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8651275-3419933,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8651275-3757028,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8651275-386719,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8651275-495971,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8651275-518835,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8651275-6384218,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8651275-6639053,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8651275-735904,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8651275-7808840,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8651275-8119887,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8651275-8547310
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
0002-9297
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
58
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
914-22
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:8651275-Alleles,
pubmed-meshheading:8651275-Base Sequence,
pubmed-meshheading:8651275-Child, Preschool,
pubmed-meshheading:8651275-Creatine,
pubmed-meshheading:8651275-Female,
pubmed-meshheading:8651275-Guanidinoacetate N-Methyltransferase,
pubmed-meshheading:8651275-Humans,
pubmed-meshheading:8651275-Infant,
pubmed-meshheading:8651275-Male,
pubmed-meshheading:8651275-Metabolism, Inborn Errors,
pubmed-meshheading:8651275-Methyltransferases,
pubmed-meshheading:8651275-Molecular Sequence Data,
pubmed-meshheading:8651275-Mutation
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pubmed:year |
1996
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pubmed:articleTitle |
Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man.
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pubmed:affiliation |
Pediatric Nerology, University Children's Hospital Göttingen, Germany.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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