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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
1980-9-26
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pubmed:abstractText |
Four patients with hyperomithinemia and gyrate atrophy of the choroid and retina age described. In vivo response to vitamin B6 is documented in three of the four patients by significant reduction of fasting serum ornithine and increase of lysine after oral B6 supplementation. Oral glucose tolerance testing in one patient resulted in marked changes in serum ornithine and lysine concentrations, in addition to mild glucose intolerance. Histochemical staining of punch muscle biopsies showed intracellular inclusions in type 2 muscle fibers. Tubular aggregates, approximately 60 nm in diameter and adjacent to the sarcoplasmic membrane, were seen on electron microscopy. Obligate heterozygotes had a mean serum ornithine slightly higher than normal, but there was considerable overlap with the normal range. Oral ornithine tolerance tests distinguished carriers from controls in only one of five cases. Deficient activity of ornithine ketoacid aminotransferase (OKT) in cultured skin fibroblasts was documented in all four patients. Approximately half-normal levels were found in obligate heterozygotes. In vitro response to B6 was manifest by increased OKT activity at increased concentrations of pyridoxal phosphate in fibroblasts from the patients.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/7395865-1170941,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7395865-1200098,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7395865-1268174,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7395865-13044774,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7395865-132162,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7395865-14907713,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7395865-239382,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7395865-270753,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7395865-4122112,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7395865-4298129,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7395865-4400816,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7395865-4457103,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7395865-4837896,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7395865-4912968,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7395865-5412614,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7395865-5575302,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7395865-5634670,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7395865-565528,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7395865-572946,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7395865-5804194,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7395865-5826521,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7395865-588272,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7395865-623190,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7395865-635581,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7395865-641146,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7395865-65285,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7395865-655164,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7395865-711502,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7395865-733185,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7395865-740364,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7395865-82193,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7395865-890972,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7395865-895065,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7395865-917049
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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 |
Jul
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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 |
32
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
529-41
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:7395865-Adult,
pubmed-meshheading:7395865-Amino Acid Metabolism, Inborn Errors,
pubmed-meshheading:7395865-Biopsy,
pubmed-meshheading:7395865-Choroid,
pubmed-meshheading:7395865-Female,
pubmed-meshheading:7395865-Glucose Tolerance Test,
pubmed-meshheading:7395865-Heterozygote,
pubmed-meshheading:7395865-Humans,
pubmed-meshheading:7395865-Male,
pubmed-meshheading:7395865-Muscles,
pubmed-meshheading:7395865-Ornithine,
pubmed-meshheading:7395865-Ornithine-Oxo-Acid Transaminase,
pubmed-meshheading:7395865-Pyridoxine,
pubmed-meshheading:7395865-Retinal Diseases,
pubmed-meshheading:7395865-Uveal Diseases
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pubmed:year |
1980
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pubmed:articleTitle |
Gyrate atrophy of the choroid and retina with hyperornithinemia: biochemical and histologic studies and response to vitamin B6.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.
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