Aspartylglucosaminuria in a Puerto Rican family: Additional features of a panethnic disorder
We report on 3 Puerto Rican brothers with the clinical and laboratory findings of aspartylglucosaminuria (AGU). Their parents were first cousins. The affected sibs have the “cardinal” manifestations of AGU, including developmental disabilities, progressive “coarsening” of the face, and early onset o...
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| Veröffentlicht in: | American journal of medical genetics 1988-11, Vol.31 (3), p.527-532 |
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| container_title | American journal of medical genetics |
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| creator | Chitayat, David Nakagawa, Sachiko Marion, Robert W. Sachs, Gay S Hahm, Sue Y. E. Goldman, Harold S. Opitz, John M. Reynolds, James F. |
| description | We report on 3 Puerto Rican brothers with the clinical and laboratory findings of aspartylglucosaminuria (AGU). Their parents were first cousins. The affected sibs have the “cardinal” manifestations of AGU, including developmental disabilities, progressive “coarsening” of the face, and early onset of hepatosplenomegaly. Biochemical studies showed elevated levels of urinary aspartylglucosamine and very low activity of aspartylglucosaminidase (AGA) in cultured fibroblasts. With long term follow‐up, previously undescribed manifestations were noted, including radiographic evidence of spondylolysis and spondylolisthesis in early childhood and development of macro‐orchidism during puberty. This family shows that AGU is not limited to individuals of Finnish background, but that the gene is panethnic in distribution and that additional changes, not previously noted, may present with advancing age. |
| doi_str_mv | 10.1002/ajmg.1320310307 |
| format | Article |
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E. ; Goldman, Harold S. ; Opitz, John M. ; Reynolds, James F.</creator><creatorcontrib>Chitayat, David ; Nakagawa, Sachiko ; Marion, Robert W. ; Sachs, Gay S ; Hahm, Sue Y. E. ; Goldman, Harold S. ; Opitz, John M. ; Reynolds, James F.</creatorcontrib><description>We report on 3 Puerto Rican brothers with the clinical and laboratory findings of aspartylglucosaminuria (AGU). Their parents were first cousins. The affected sibs have the “cardinal” manifestations of AGU, including developmental disabilities, progressive “coarsening” of the face, and early onset of hepatosplenomegaly. Biochemical studies showed elevated levels of urinary aspartylglucosamine and very low activity of aspartylglucosaminidase (AGA) in cultured fibroblasts. With long term follow‐up, previously undescribed manifestations were noted, including radiographic evidence of spondylolysis and spondylolisthesis in early childhood and development of macro‐orchidism during puberty. This family shows that AGU is not limited to individuals of Finnish background, but that the gene is panethnic in distribution and that additional changes, not previously noted, may present with advancing age.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/ajmg.1320310307</identifier><identifier>PMID: 3228136</identifier><identifier>CODEN: AJMGDA</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Acetylglucosamine - analogs & derivatives ; Acetylglucosamine - urine ; Adolescent ; AGU ; Amidohydrolases - urine ; Aspartylglucosylaminase - genetics ; Aspartylglucosylaminase - urine ; autosomal recessive inheritance ; Biological and medical sciences ; Consanguinity ; Diseases in Twins ; Errors of metabolism ; Genes, Recessive ; Gonadal Dysgenesis ; Humans ; Lipids (lysosomal enzyme disorders, storage diseases) ; macro-orchidism ; Male ; Medical sciences ; Metabolic diseases ; Pedigree ; Puerto Rico - ethnology ; spondylolisthesis ; Spondylolisthesis - genetics ; Spondylolysis - genetics ; Testis - abnormalities</subject><ispartof>American journal of medical genetics, 1988-11, Vol.31 (3), p.527-532</ispartof><rights>Copyright © 1988 Wiley‐Liss, Inc., A Wiley Company</rights><rights>1990 INIST-CNRS</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4117-cfdbe5ce4ca7d4cb6ed38bd7a69ca7f910eeeb7257bbb4d22231e7a9e579c7ce3</citedby><cites>FETCH-LOGICAL-c4117-cfdbe5ce4ca7d4cb6ed38bd7a69ca7f910eeeb7257bbb4d22231e7a9e579c7ce3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=6827969$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/3228136$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Chitayat, David</creatorcontrib><creatorcontrib>Nakagawa, Sachiko</creatorcontrib><creatorcontrib>Marion, Robert W.</creatorcontrib><creatorcontrib>Sachs, Gay S</creatorcontrib><creatorcontrib>Hahm, Sue Y. E.</creatorcontrib><creatorcontrib>Goldman, Harold S.</creatorcontrib><creatorcontrib>Opitz, John M.</creatorcontrib><creatorcontrib>Reynolds, James F.</creatorcontrib><title>Aspartylglucosaminuria in a Puerto Rican family: Additional features of a panethnic disorder</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>We report on 3 Puerto Rican brothers with the clinical and laboratory findings of aspartylglucosaminuria (AGU). Their parents were first cousins. The affected sibs have the “cardinal” manifestations of AGU, including developmental disabilities, progressive “coarsening” of the face, and early onset of hepatosplenomegaly. Biochemical studies showed elevated levels of urinary aspartylglucosamine and very low activity of aspartylglucosaminidase (AGA) in cultured fibroblasts. With long term follow‐up, previously undescribed manifestations were noted, including radiographic evidence of spondylolysis and spondylolisthesis in early childhood and development of macro‐orchidism during puberty. This family shows that AGU is not limited to individuals of Finnish background, but that the gene is panethnic in distribution and that additional changes, not previously noted, may present with advancing age.</description><subject>Acetylglucosamine - analogs & derivatives</subject><subject>Acetylglucosamine - urine</subject><subject>Adolescent</subject><subject>AGU</subject><subject>Amidohydrolases - urine</subject><subject>Aspartylglucosylaminase - genetics</subject><subject>Aspartylglucosylaminase - urine</subject><subject>autosomal recessive inheritance</subject><subject>Biological and medical sciences</subject><subject>Consanguinity</subject><subject>Diseases in Twins</subject><subject>Errors of metabolism</subject><subject>Genes, Recessive</subject><subject>Gonadal Dysgenesis</subject><subject>Humans</subject><subject>Lipids (lysosomal enzyme disorders, storage diseases)</subject><subject>macro-orchidism</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Pedigree</subject><subject>Puerto Rico - ethnology</subject><subject>spondylolisthesis</subject><subject>Spondylolisthesis - genetics</subject><subject>Spondylolysis - genetics</subject><subject>Testis - abnormalities</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1988</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkM1v1DAQxS0EKkvhzAkpB8QtrT-ydgynVYGlqF3QAoIDkjWxJ8Wtkyx2Itj_vq52tYhTTyPN-735eIQ8Z_SEUcpP4bq7OmGCU8GooOoBmTGqZVlLXj8kM8qqulRc68fkSUrXlLLc4EfkSHBeMyFn5OcibSCO23AVJjsk6Hw_RQ-F7wsoPk8Yx6FYewt90WYtbF8XC-f86IceQtEijFPEVAxtpjfQ4_ir97ZwPg3RYXxKHrUQEj7b12Py7f27r2cfyotPy_OzxUVpK8ZUaVvX4NxiZUG5yjYSnagbp0Dq3Gk1o4jYKD5XTdNUjnMuGCrQOFfaKovimLzazd3E4feEaTSdTxZDyBcNUzKqlkrIimfwdAfaOKQUsTWb6DuIW8OoucvT3OVp_uWZHS_2o6emQ3fg9wFm_eVeh2QhtBF669MBkzVXWuqMvdlhf3zA7X1bzeLj5fK_I8qd26cR_x7cEG9MfkzNzffV0qxWX36s6fqt4eIWNvGgqA</recordid><startdate>198811</startdate><enddate>198811</enddate><creator>Chitayat, David</creator><creator>Nakagawa, Sachiko</creator><creator>Marion, Robert W.</creator><creator>Sachs, Gay S</creator><creator>Hahm, Sue Y. E.</creator><creator>Goldman, Harold S.</creator><creator>Opitz, John M.</creator><creator>Reynolds, James F.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley-Liss</general><scope>BSCLL</scope><scope>IQODW</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>198811</creationdate><title>Aspartylglucosaminuria in a Puerto Rican family: Additional features of a panethnic disorder</title><author>Chitayat, David ; Nakagawa, Sachiko ; Marion, Robert W. ; Sachs, Gay S ; Hahm, Sue Y. E. ; Goldman, Harold S. ; Opitz, John M. ; Reynolds, James F.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4117-cfdbe5ce4ca7d4cb6ed38bd7a69ca7f910eeeb7257bbb4d22231e7a9e579c7ce3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1988</creationdate><topic>Acetylglucosamine - analogs & derivatives</topic><topic>Acetylglucosamine - urine</topic><topic>Adolescent</topic><topic>AGU</topic><topic>Amidohydrolases - urine</topic><topic>Aspartylglucosylaminase - genetics</topic><topic>Aspartylglucosylaminase - urine</topic><topic>autosomal recessive inheritance</topic><topic>Biological and medical sciences</topic><topic>Consanguinity</topic><topic>Diseases in Twins</topic><topic>Errors of metabolism</topic><topic>Genes, Recessive</topic><topic>Gonadal Dysgenesis</topic><topic>Humans</topic><topic>Lipids (lysosomal enzyme disorders, storage diseases)</topic><topic>macro-orchidism</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Pedigree</topic><topic>Puerto Rico - ethnology</topic><topic>spondylolisthesis</topic><topic>Spondylolisthesis - genetics</topic><topic>Spondylolysis - genetics</topic><topic>Testis - abnormalities</topic><toplevel>online_resources</toplevel><creatorcontrib>Chitayat, David</creatorcontrib><creatorcontrib>Nakagawa, Sachiko</creatorcontrib><creatorcontrib>Marion, Robert W.</creatorcontrib><creatorcontrib>Sachs, Gay S</creatorcontrib><creatorcontrib>Hahm, Sue Y. E.</creatorcontrib><creatorcontrib>Goldman, Harold S.</creatorcontrib><creatorcontrib>Opitz, John M.</creatorcontrib><creatorcontrib>Reynolds, James F.</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</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>Chitayat, David</au><au>Nakagawa, Sachiko</au><au>Marion, Robert W.</au><au>Sachs, Gay S</au><au>Hahm, Sue Y. 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Biochemical studies showed elevated levels of urinary aspartylglucosamine and very low activity of aspartylglucosaminidase (AGA) in cultured fibroblasts. With long term follow‐up, previously undescribed manifestations were noted, including radiographic evidence of spondylolysis and spondylolisthesis in early childhood and development of macro‐orchidism during puberty. This family shows that AGU is not limited to individuals of Finnish background, but that the gene is panethnic in distribution and that additional changes, not previously noted, may present with advancing age.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>3228136</pmid><doi>10.1002/ajmg.1320310307</doi><tpages>6</tpages></addata></record> |
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| subjects | Acetylglucosamine - analogs & derivatives Acetylglucosamine - urine Adolescent AGU Amidohydrolases - urine Aspartylglucosylaminase - genetics Aspartylglucosylaminase - urine autosomal recessive inheritance Biological and medical sciences Consanguinity Diseases in Twins Errors of metabolism Genes, Recessive Gonadal Dysgenesis Humans Lipids (lysosomal enzyme disorders, storage diseases) macro-orchidism Male Medical sciences Metabolic diseases Pedigree Puerto Rico - ethnology spondylolisthesis Spondylolisthesis - genetics Spondylolysis - genetics Testis - abnormalities |
| title | Aspartylglucosaminuria in a Puerto Rican family: Additional features of a panethnic disorder |
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