Clinical and biochemical characteristics of prolidase deficiency in siblings
Identifieur interne : 00F273 ( Main/Exploration ); précédent : 00F272; suivant : 00F274Clinical and biochemical characteristics of prolidase deficiency in siblings
Auteurs : David Freij [Liban] ; Harvey L. Levy [États-Unis] ; Gertrud Dudin [Liban] ; Diya' Mutasim [Liban] ; Mary Deeb [Liban] ; Vazken M. Der Kaloustian [Liban]Source :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1984-11.
Abstract
Two brothers with recurrent skin ulcers of the lower limbs, subnormal intelligence, developmental abnormalities, and poliosis were found to excrete large quantities of several imidodipeptides in their urine. Glycylproline was the most prominent imidodipeptide excreted and was also detected in their blood. Prolidase activity was markedly deficient in red blood cells from both patients (4.1% and 3.7% of control mean) and skin fibroblasts from the one brother so examined (3.7% of control mean). A total of 20 patients with prolidase deficiency, including the two in this report, have been described in the literature. Their manifestations and various attempts at treatment are reviewed.
Url:
DOI: 10.1002/ajmg.1320190319
Affiliations:
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Levy</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Joseph P. Kennedy, Jr., Memorial Laboratories of the Neurology Service, Harvard Medical School, Boston</wicri:cityArea></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Massachusetts General Hospital, and the Department of Neurology, Harvard Medical School, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Dudin, Gertrud" sort="Dudin, Gertrud" uniqKey="Dudin G" first="Gertrud" last="Dudin">Gertrud Dudin</name><affiliation wicri:level="1"><country xml:lang="fr">Liban</country><wicri:regionArea>Department of Pediatrics, American University of Beirut Medical Center, Beirut</wicri:regionArea><wicri:noRegion>Beirut</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Liban</country><wicri:regionArea>National Unit of Human Genetics of the Lebanese National Council for Scientific Research, American University of Beirut Medical Center, Beirut</wicri:regionArea><wicri:noRegion>Beirut</wicri:noRegion></affiliation></author><author><name sortKey="Mutasim, Diya" sort="Mutasim, Diya" uniqKey="Mutasim D" first="Diya'" last="Mutasim">Diya' Mutasim</name><affiliation wicri:level="1"><country xml:lang="fr">Liban</country><wicri:regionArea>Division of Dermatology, American University of Beirut Medical Center, Beirut</wicri:regionArea><wicri:noRegion>Beirut</wicri:noRegion></affiliation></author><author><name sortKey="Deeb, Mary" sort="Deeb, Mary" uniqKey="Deeb M" first="Mary" last="Deeb">Mary Deeb</name><affiliation wicri:level="1"><country xml:lang="fr">Liban</country><wicri:regionArea>Department of Pediatrics, American University of Beirut Medical Center, Beirut</wicri:regionArea><wicri:noRegion>Beirut</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Liban</country><wicri:regionArea>National Unit of Human Genetics of the Lebanese National Council for Scientific Research, American University of Beirut Medical Center, Beirut</wicri:regionArea><wicri:noRegion>Beirut</wicri:noRegion></affiliation></author><author><name sortKey="Der Kaloustian, Vazken M" sort="Der Kaloustian, Vazken M" uniqKey="Der Kaloustian V" first="Vazken M." last="Der Kaloustian">Vazken M. Der Kaloustian</name><affiliation wicri:level="1"><country xml:lang="fr">Liban</country><wicri:regionArea>Department of Pediatrics, American University of Beirut Medical Center, Beirut</wicri:regionArea><wicri:noRegion>Beirut</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Liban</country><wicri:regionArea>National Unit of Human Genetics of the Lebanese National Council for Scientific Research, American University of Beirut Medical Center, Beirut</wicri:regionArea><wicri:noRegion>Beirut</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">American Journal of Medical Genetics</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="ISSN">0148-7299</idno><idno type="eISSN">1096-8628</idno><imprint><biblScope unit="vol">19</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="561">561</biblScope><biblScope unit="page" to="571">571</biblScope><biblScope unit="page-count">11</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1984-11">1984-11</date></imprint><idno type="ISSN">0148-7299</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0148-7299</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Two brothers with recurrent skin ulcers of the lower limbs, subnormal intelligence, developmental abnormalities, and poliosis were found to excrete large quantities of several imidodipeptides in their urine. Glycylproline was the most prominent imidodipeptide excreted and was also detected in their blood. Prolidase activity was markedly deficient in red blood cells from both patients (4.1% and 3.7% of control mean) and skin fibroblasts from the one brother so examined (3.7% of control mean). A total of 20 patients with prolidase deficiency, including the two in this report, have been described in the literature. Their manifestations and various attempts at treatment are reviewed.</div></front></TEI><affiliations><list><country><li>Liban</li><li>États-Unis</li></country><region><li>Massachusetts</li></region></list><tree><country name="Liban"><noRegion><name sortKey="Freij, David" sort="Freij, David" uniqKey="Freij D" first="David" last="Freij">David Freij</name></noRegion><name sortKey="Deeb, Mary" sort="Deeb, Mary" uniqKey="Deeb M" first="Mary" last="Deeb">Mary Deeb</name><name sortKey="Deeb, Mary" sort="Deeb, Mary" uniqKey="Deeb M" first="Mary" last="Deeb">Mary Deeb</name><name sortKey="Der Kaloustian, Vazken M" sort="Der Kaloustian, Vazken M" uniqKey="Der Kaloustian V" first="Vazken M." last="Der Kaloustian">Vazken M. Der Kaloustian</name><name sortKey="Der Kaloustian, Vazken M" sort="Der Kaloustian, Vazken M" uniqKey="Der Kaloustian V" first="Vazken M." last="Der Kaloustian">Vazken M. Der Kaloustian</name><name sortKey="Dudin, Gertrud" sort="Dudin, Gertrud" uniqKey="Dudin G" first="Gertrud" last="Dudin">Gertrud Dudin</name><name sortKey="Dudin, Gertrud" sort="Dudin, Gertrud" uniqKey="Dudin G" first="Gertrud" last="Dudin">Gertrud Dudin</name><name sortKey="Freij, David" sort="Freij, David" uniqKey="Freij D" first="David" last="Freij">David Freij</name><name sortKey="Mutasim, Diya" sort="Mutasim, Diya" uniqKey="Mutasim D" first="Diya'" last="Mutasim">Diya' Mutasim</name></country><country name="États-Unis"><region name="Massachusetts"><name sortKey="Levy, Harvey L" sort="Levy, Harvey L" uniqKey="Levy H" first="Harvey L." last="Levy">Harvey L. Levy</name></region><name sortKey="Levy, Harvey L" sort="Levy, Harvey L" uniqKey="Levy H" first="Harvey L." last="Levy">Harvey L. Levy</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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