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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
1976-10-29
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pubmed:abstractText |
Type II hyperprolinemia is an inherited abnormality in amino acid metabolism characterized by elevated plasma proline concentrations, iminoglycinuria, and the urinary excretion of delta1-pyrroline compounds. To define the enzymologic defect of this biochemical disorder, we developed a specific, sensitive radioisotopic assay for the proline degradative enzyme delta1-pyrroline-5-carboxylic acid dehydrogenase. Using this assay, we have shown an absence of delta1-pyrroline-5-carboxylic acid dehydrogenase activity in the cultured fibroblasts from three patients with type II hyperprolinemia. We confirmed this result on cultured cells by demonstrating a similar absence of delta1-pyrroline-5-carboxylic acid dehydrogenase activity in extracts prepared from the peripheral leukocytes of these patients. Additionally, we found significantly decreased levels of delta1-pyrroline-5-carboxylic acid dehydrogenase activity in the leukocyte extracts from five obligate heterozygotes for type II hyperprolinemia. We also demonstrated a reduction in leukocyte delta1-pyrroline-5-carboxylic acid dehydrogenase activity in three successive generations of a family. These results prove that an absence of delta1-pyrroline-5-carboxylic acid dehydrogenase is the enzymologic defect in type II hyperprolinemia and that this defect is inherited in an autosomal recessive fashion.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/956388-1200680,
http://linkedlifedata.com/resource/pubmed/commentcorrection/956388-13293190,
http://linkedlifedata.com/resource/pubmed/commentcorrection/956388-13334497,
http://linkedlifedata.com/resource/pubmed/commentcorrection/956388-13681370,
http://linkedlifedata.com/resource/pubmed/commentcorrection/956388-13891473,
http://linkedlifedata.com/resource/pubmed/commentcorrection/956388-14290545,
http://linkedlifedata.com/resource/pubmed/commentcorrection/956388-14484915,
http://linkedlifedata.com/resource/pubmed/commentcorrection/956388-14907713,
http://linkedlifedata.com/resource/pubmed/commentcorrection/956388-163285,
http://linkedlifedata.com/resource/pubmed/commentcorrection/956388-4369405,
http://linkedlifedata.com/resource/pubmed/commentcorrection/956388-4747312,
http://linkedlifedata.com/resource/pubmed/commentcorrection/956388-4753151,
http://linkedlifedata.com/resource/pubmed/commentcorrection/956388-4753152,
http://linkedlifedata.com/resource/pubmed/commentcorrection/956388-4796343,
http://linkedlifedata.com/resource/pubmed/commentcorrection/956388-4825691,
http://linkedlifedata.com/resource/pubmed/commentcorrection/956388-4851275,
http://linkedlifedata.com/resource/pubmed/commentcorrection/956388-5450170,
http://linkedlifedata.com/resource/pubmed/commentcorrection/956388-5500436,
http://linkedlifedata.com/resource/pubmed/commentcorrection/956388-5518053,
http://linkedlifedata.com/resource/pubmed/commentcorrection/956388-5815222,
http://linkedlifedata.com/resource/pubmed/commentcorrection/956388-5833547
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
0021-9738
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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 |
598-603
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:956388-Amino Acid Metabolism, Inborn Errors,
pubmed-meshheading:956388-Carboxylic Acids,
pubmed-meshheading:956388-Cells, Cultured,
pubmed-meshheading:956388-Female,
pubmed-meshheading:956388-Fibroblasts,
pubmed-meshheading:956388-Humans,
pubmed-meshheading:956388-Leukocytes,
pubmed-meshheading:956388-Lymphocytes,
pubmed-meshheading:956388-Male,
pubmed-meshheading:956388-Oxidoreductases,
pubmed-meshheading:956388-Pedigree,
pubmed-meshheading:956388-Proline,
pubmed-meshheading:956388-Pyrroles,
pubmed-meshheading:956388-Skin
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pubmed:year |
1976
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pubmed:articleTitle |
Type II hyperprolinemia. Delta1-pyrroline-5-carboxylic acid dehydrogenase deficiency in cultured skin fibroblasts and circulating lymphocytes.
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pubmed:publicationType |
Journal Article,
In Vitro
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