Mucolipidosis I - A sialidosis
Mucolipidosis I is characterized by Hurler‐like features and skeletal dysplasia with a cherry‐red macular spot and signs of neurodegeneration involving neuronal cells and myelin. Excessive amounts of sialic acid‐containing compounds were found in cultured fibroblasts, leukocytes, and urine of a pati...
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| Veröffentlicht in: | American journal of medical genetics 1977, Vol.1 (1), p.21-29 |
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| container_title | American journal of medical genetics |
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| creator | Spranger, J. Gehler, J. Cantz, M. Opitz, J. M. |
| description | Mucolipidosis I is characterized by Hurler‐like features and skeletal dysplasia with a cherry‐red macular spot and signs of neurodegeneration involving neuronal cells and myelin. Excessive amounts of sialic acid‐containing compounds were found in cultured fibroblasts, leukocytes, and urine of a patient with a clinical phenotype of mucolipidosis I. In cultured fibroblasts, profoundly diminished activity of an α‐N‐acetylneuraminidase (sialidase) was found. Mucolipidosis I thus appears to be a distinct disorder of complex carbohydrate catabolism caused by the genetic deficiency of a neuraminidase. |
| doi_str_mv | 10.1002/ajmg.1320010104 |
| format | Article |
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M.</creator><creatorcontrib>Spranger, J. ; Gehler, J. ; Cantz, M. ; Opitz, J. M.</creatorcontrib><description>Mucolipidosis I is characterized by Hurler‐like features and skeletal dysplasia with a cherry‐red macular spot and signs of neurodegeneration involving neuronal cells and myelin. Excessive amounts of sialic acid‐containing compounds were found in cultured fibroblasts, leukocytes, and urine of a patient with a clinical phenotype of mucolipidosis I. In cultured fibroblasts, profoundly diminished activity of an α‐N‐acetylneuraminidase (sialidase) was found. Mucolipidosis I thus appears to be a distinct disorder of complex carbohydrate catabolism caused by the genetic deficiency of a neuraminidase.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/ajmg.1320010104</identifier><identifier>PMID: 610423</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Cells, Cultured ; Child ; Child, Preschool ; CNS degenerative disease ; complex carbohydrate catabolism ; cultured fibroblasts ; dysostosis multiplex ; Follow-Up Studies ; Humans ; Hydrolases - metabolism ; leukocytes ; lysosomal hydrolase deficiency ; Lysosomes - enzymology ; Male ; Mucolipidoses - genetics ; Mucolipidoses - metabolism ; mucolipidosis I ; Neuraminidase - genetics ; Neuraminidase - metabolism ; Phenotype ; Sialic Acids - metabolism ; sialidase deficiency ; Skin - enzymology</subject><ispartof>American journal of medical genetics, 1977, Vol.1 (1), p.21-29</ispartof><rights>Copyright © 1977 Wiley‐Liss, Inc., A Wiley Company</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3794-9569f976f317bcd1b8eeb266f8dda50444941495e7d7ee9d5bcfceb4ffca02d53</citedby><cites>FETCH-LOGICAL-c3794-9569f976f317bcd1b8eeb266f8dda50444941495e7d7ee9d5bcfceb4ffca02d53</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,4024,27923,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/610423$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Spranger, J.</creatorcontrib><creatorcontrib>Gehler, J.</creatorcontrib><creatorcontrib>Cantz, M.</creatorcontrib><creatorcontrib>Opitz, J. M.</creatorcontrib><title>Mucolipidosis I - A sialidosis</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>Mucolipidosis I is characterized by Hurler‐like features and skeletal dysplasia with a cherry‐red macular spot and signs of neurodegeneration involving neuronal cells and myelin. Excessive amounts of sialic acid‐containing compounds were found in cultured fibroblasts, leukocytes, and urine of a patient with a clinical phenotype of mucolipidosis I. In cultured fibroblasts, profoundly diminished activity of an α‐N‐acetylneuraminidase (sialidase) was found. Mucolipidosis I thus appears to be a distinct disorder of complex carbohydrate catabolism caused by the genetic deficiency of a neuraminidase.</description><subject>Cells, Cultured</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>CNS degenerative disease</subject><subject>complex carbohydrate catabolism</subject><subject>cultured fibroblasts</subject><subject>dysostosis multiplex</subject><subject>Follow-Up Studies</subject><subject>Humans</subject><subject>Hydrolases - metabolism</subject><subject>leukocytes</subject><subject>lysosomal hydrolase deficiency</subject><subject>Lysosomes - enzymology</subject><subject>Male</subject><subject>Mucolipidoses - genetics</subject><subject>Mucolipidoses - metabolism</subject><subject>mucolipidosis I</subject><subject>Neuraminidase - genetics</subject><subject>Neuraminidase - metabolism</subject><subject>Phenotype</subject><subject>Sialic Acids - metabolism</subject><subject>sialidase deficiency</subject><subject>Skin - enzymology</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1977</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkDtPwzAUhS3EqxRmFoQ6saX1K3YspqqioYgCA4jRcvxALgkpcSPov8dVqiImdIcr3fOdc6UDwDmCQwQhHqlF9TZEBEOI4tA90ENQsCRjONsHPYholnAsxDE4CWERoXjAR-CQRRaTHrict7ou_dKbOvgwmA2SwXgQvCq7wyk4cKoM9my7--BlevM8uU3uH_PZZHyfaMIFTUTKhBOcOYJ4oQ0qMmsLzJjLjFEppJQKiqhILTfcWmHSQjttC-qcVhCblPTBVZe7bOrP1oaVrHzQtizVh63bIDnJYBq_RHDUgbqpQ2isk8vGV6pZSwTlphC5KUT-FhIdF9votqis2fFdA1G-7uQvX9r1f2lyfDfP_4QnnduHlf3euVXzLhknPJWvD7nMEZzCJ0wlIz-fF3ol</recordid><startdate>1977</startdate><enddate>1977</enddate><creator>Spranger, J.</creator><creator>Gehler, J.</creator><creator>Cantz, M.</creator><creator>Opitz, J. M.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><scope>BSCLL</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>1977</creationdate><title>Mucolipidosis I - A sialidosis</title><author>Spranger, J. ; Gehler, J. ; Cantz, M. ; Opitz, J. M.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3794-9569f976f317bcd1b8eeb266f8dda50444941495e7d7ee9d5bcfceb4ffca02d53</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1977</creationdate><topic>Cells, Cultured</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>CNS degenerative disease</topic><topic>complex carbohydrate catabolism</topic><topic>cultured fibroblasts</topic><topic>dysostosis multiplex</topic><topic>Follow-Up Studies</topic><topic>Humans</topic><topic>Hydrolases - metabolism</topic><topic>leukocytes</topic><topic>lysosomal hydrolase deficiency</topic><topic>Lysosomes - enzymology</topic><topic>Male</topic><topic>Mucolipidoses - genetics</topic><topic>Mucolipidoses - metabolism</topic><topic>mucolipidosis I</topic><topic>Neuraminidase - genetics</topic><topic>Neuraminidase - metabolism</topic><topic>Phenotype</topic><topic>Sialic Acids - metabolism</topic><topic>sialidase deficiency</topic><topic>Skin - enzymology</topic><toplevel>online_resources</toplevel><creatorcontrib>Spranger, J.</creatorcontrib><creatorcontrib>Gehler, J.</creatorcontrib><creatorcontrib>Cantz, M.</creatorcontrib><creatorcontrib>Opitz, J. M.</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>American journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Spranger, J.</au><au>Gehler, J.</au><au>Cantz, M.</au><au>Opitz, J. M.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mucolipidosis I - A sialidosis</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>1977</date><risdate>1977</risdate><volume>1</volume><issue>1</issue><spage>21</spage><epage>29</epage><pages>21-29</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><abstract>Mucolipidosis I is characterized by Hurler‐like features and skeletal dysplasia with a cherry‐red macular spot and signs of neurodegeneration involving neuronal cells and myelin. Excessive amounts of sialic acid‐containing compounds were found in cultured fibroblasts, leukocytes, and urine of a patient with a clinical phenotype of mucolipidosis I. In cultured fibroblasts, profoundly diminished activity of an α‐N‐acetylneuraminidase (sialidase) was found. Mucolipidosis I thus appears to be a distinct disorder of complex carbohydrate catabolism caused by the genetic deficiency of a neuraminidase.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>610423</pmid><doi>10.1002/ajmg.1320010104</doi><tpages>9</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0148-7299 |
| ispartof | American journal of medical genetics, 1977, Vol.1 (1), p.21-29 |
| issn | 0148-7299 1096-8628 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_73805956 |
| source | MEDLINE; Alma/SFX Local Collection |
| subjects | Cells, Cultured Child Child, Preschool CNS degenerative disease complex carbohydrate catabolism cultured fibroblasts dysostosis multiplex Follow-Up Studies Humans Hydrolases - metabolism leukocytes lysosomal hydrolase deficiency Lysosomes - enzymology Male Mucolipidoses - genetics Mucolipidoses - metabolism mucolipidosis I Neuraminidase - genetics Neuraminidase - metabolism Phenotype Sialic Acids - metabolism sialidase deficiency Skin - enzymology |
| title | Mucolipidosis I - A sialidosis |
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