Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria
Combined 3-methylglutaconic and 3-methylglutaric aciduria, one of the more common urinary organic acid abnormalities, has been observed in at least three clinical syndromes. We studied an additional seven patients with 3-methylglutaconic aciduria, four of whom were best categorized as having the typ...
Gespeichert in:
| Veröffentlicht in: | The Journal of pediatrics 1991-06, Vol.118 (6), p.885-890 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 890 |
|---|---|
| container_issue | 6 |
| container_start_page | 885 |
| container_title | The Journal of pediatrics |
| container_volume | 118 |
| creator | Gibson, K.M. Sherwood, W.G. Hoffmann, G.F. Stumpf, D.A. Dianzanl, I. Schutgens, R.B.H. Barth, P.G. Weismann, U. Bachmann, C. Schrynemackers-Pitance, P. Verloes, A. Narisawa, K. Mino, M. Ohya, N. Kelley, R.I. |
| description | Combined 3-methylglutaconic and 3-methylglutaric aciduria, one of the more common urinary organic acid abnormalities, has been observed in at least three clinical syndromes. We studied an additional seven patients with 3-methylglutaconic aciduria, four of whom were best categorized as having the type II syndrome, two as having an “unspecified” syndrome, and one who may have had a primary urea cycle defect. In cultured cells and autopsy tissues derived from patients with the type II and unspecified syndromes, we were unsuccessful In identifying a defect in the leucine degradative pathway distal to 3-methylcrotonyl-coenzyme A carboxylase and in the cholesterol biosynthetic pathway between 3-hydroxy-3-methylglutaryl-coenzyme A reductase and diphosphom-evalonate decarboxylase. Further assessment of the cholesterol biosynthetic pathway in several patients with one of the two types of disease also provided no defined abnormality. The primary metabolic defects in the type II and unspecified syndromes remain undefined. |
| doi_str_mv | 10.1016/S0022-3476(05)82199-7 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_80591511</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>S0022347605821997</els_id><sourcerecordid>80591511</sourcerecordid><originalsourceid>FETCH-LOGICAL-c389t-176baba68fdcf063e469aa18ee1ef38de72597e3d6dd90be302bd1022a9e3c183</originalsourceid><addsrcrecordid>eNqFkMFO3DAQhi1URJdtHwEph6qCQ2AcJ3Z8qqoVsEhIINGeLceesEZJvLWdSnl7Artajpzm8H__zOgj5IzCJQXKr54AiiJnpeDnUF3UBZUyF0dkQUGKnNeMfSGLA_KVnMb4AgCyBDghJ1RQKLhYkPXjBgefpq0z2QYTBv-MA7o0ZW7I0gazOA02-B5j5tuM5T2mzdQ9d2PSxg9zSRtnx-D0N3Lc6i7i9_1ckr83139W6_z-4fZu9fs-N6yWKaeCN7rRvG6taYEzLLnUmtaIFFtWWxRFJQUyy62V0CCDorHzr4WWyAyt2ZL83O3dBv9vxJhU76LBrtMD-jGqGipJK0pnsNqBJvgYA7ZqG1yvw6QoqDeD6t2getOjoFLvBpWYe2f7A2PTo_1o7ZTN-Y99rqPRXRv0YFw8YFVZUCbLGfu1w3CW8d9hUNE4HAxaF9AkZb375JFXS0iN5A</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>80591511</pqid></control><display><type>article</type><title>Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria</title><source>MEDLINE</source><source>Elsevier ScienceDirect Journals</source><creator>Gibson, K.M. ; Sherwood, W.G. ; Hoffmann, G.F. ; Stumpf, D.A. ; Dianzanl, I. ; Schutgens, R.B.H. ; Barth, P.G. ; Weismann, U. ; Bachmann, C. ; Schrynemackers-Pitance, P. ; Verloes, A. ; Narisawa, K. ; Mino, M. ; Ohya, N. ; Kelley, R.I.</creator><creatorcontrib>Gibson, K.M. ; Sherwood, W.G. ; Hoffmann, G.F. ; Stumpf, D.A. ; Dianzanl, I. ; Schutgens, R.B.H. ; Barth, P.G. ; Weismann, U. ; Bachmann, C. ; Schrynemackers-Pitance, P. ; Verloes, A. ; Narisawa, K. ; Mino, M. ; Ohya, N. ; Kelley, R.I.</creatorcontrib><description>Combined 3-methylglutaconic and 3-methylglutaric aciduria, one of the more common urinary organic acid abnormalities, has been observed in at least three clinical syndromes. We studied an additional seven patients with 3-methylglutaconic aciduria, four of whom were best categorized as having the type II syndrome, two as having an “unspecified” syndrome, and one who may have had a primary urea cycle defect. In cultured cells and autopsy tissues derived from patients with the type II and unspecified syndromes, we were unsuccessful In identifying a defect in the leucine degradative pathway distal to 3-methylcrotonyl-coenzyme A carboxylase and in the cholesterol biosynthetic pathway between 3-hydroxy-3-methylglutaryl-coenzyme A reductase and diphosphom-evalonate decarboxylase. Further assessment of the cholesterol biosynthetic pathway in several patients with one of the two types of disease also provided no defined abnormality. The primary metabolic defects in the type II and unspecified syndromes remain undefined.</description><identifier>ISSN: 0022-3476</identifier><identifier>EISSN: 1097-6833</identifier><identifier>DOI: 10.1016/S0022-3476(05)82199-7</identifier><identifier>PMID: 1710267</identifier><identifier>CODEN: JOPDAB</identifier><language>eng</language><publisher>New York, NY: Mosby, Inc</publisher><subject>Amino Acid Metabolism, Inborn Errors - enzymology ; Amino Acid Metabolism, Inborn Errors - genetics ; Amino Acid Metabolism, Inborn Errors - urine ; Biological and medical sciences ; Coenzyme A - metabolism ; Glutarates - metabolism ; Glutarates - urine ; Humans ; Hydroxymethylglutaryl CoA Reductases ; Medical sciences ; Meglutol - analogs & derivatives ; Meglutol - metabolism ; Meglutol - urine ; Metabolic diseases ; Phenotype</subject><ispartof>The Journal of pediatrics, 1991-06, Vol.118 (6), p.885-890</ispartof><rights>1991 Mosby-Year Book, inc.</rights><rights>1992 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c389t-176baba68fdcf063e469aa18ee1ef38de72597e3d6dd90be302bd1022a9e3c183</citedby><cites>FETCH-LOGICAL-c389t-176baba68fdcf063e469aa18ee1ef38de72597e3d6dd90be302bd1022a9e3c183</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/S0022-3476(05)82199-7$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,777,781,3537,27905,27906,45976</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=5421394$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/1710267$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Gibson, K.M.</creatorcontrib><creatorcontrib>Sherwood, W.G.</creatorcontrib><creatorcontrib>Hoffmann, G.F.</creatorcontrib><creatorcontrib>Stumpf, D.A.</creatorcontrib><creatorcontrib>Dianzanl, I.</creatorcontrib><creatorcontrib>Schutgens, R.B.H.</creatorcontrib><creatorcontrib>Barth, P.G.</creatorcontrib><creatorcontrib>Weismann, U.</creatorcontrib><creatorcontrib>Bachmann, C.</creatorcontrib><creatorcontrib>Schrynemackers-Pitance, P.</creatorcontrib><creatorcontrib>Verloes, A.</creatorcontrib><creatorcontrib>Narisawa, K.</creatorcontrib><creatorcontrib>Mino, M.</creatorcontrib><creatorcontrib>Ohya, N.</creatorcontrib><creatorcontrib>Kelley, R.I.</creatorcontrib><title>Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria</title><title>The Journal of pediatrics</title><addtitle>J Pediatr</addtitle><description>Combined 3-methylglutaconic and 3-methylglutaric aciduria, one of the more common urinary organic acid abnormalities, has been observed in at least three clinical syndromes. We studied an additional seven patients with 3-methylglutaconic aciduria, four of whom were best categorized as having the type II syndrome, two as having an “unspecified” syndrome, and one who may have had a primary urea cycle defect. In cultured cells and autopsy tissues derived from patients with the type II and unspecified syndromes, we were unsuccessful In identifying a defect in the leucine degradative pathway distal to 3-methylcrotonyl-coenzyme A carboxylase and in the cholesterol biosynthetic pathway between 3-hydroxy-3-methylglutaryl-coenzyme A reductase and diphosphom-evalonate decarboxylase. Further assessment of the cholesterol biosynthetic pathway in several patients with one of the two types of disease also provided no defined abnormality. The primary metabolic defects in the type II and unspecified syndromes remain undefined.</description><subject>Amino Acid Metabolism, Inborn Errors - enzymology</subject><subject>Amino Acid Metabolism, Inborn Errors - genetics</subject><subject>Amino Acid Metabolism, Inborn Errors - urine</subject><subject>Biological and medical sciences</subject><subject>Coenzyme A - metabolism</subject><subject>Glutarates - metabolism</subject><subject>Glutarates - urine</subject><subject>Humans</subject><subject>Hydroxymethylglutaryl CoA Reductases</subject><subject>Medical sciences</subject><subject>Meglutol - analogs & derivatives</subject><subject>Meglutol - metabolism</subject><subject>Meglutol - urine</subject><subject>Metabolic diseases</subject><subject>Phenotype</subject><issn>0022-3476</issn><issn>1097-6833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1991</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkMFO3DAQhi1URJdtHwEph6qCQ2AcJ3Z8qqoVsEhIINGeLceesEZJvLWdSnl7Artajpzm8H__zOgj5IzCJQXKr54AiiJnpeDnUF3UBZUyF0dkQUGKnNeMfSGLA_KVnMb4AgCyBDghJ1RQKLhYkPXjBgefpq0z2QYTBv-MA7o0ZW7I0gazOA02-B5j5tuM5T2mzdQ9d2PSxg9zSRtnx-D0N3Lc6i7i9_1ckr83139W6_z-4fZu9fs-N6yWKaeCN7rRvG6taYEzLLnUmtaIFFtWWxRFJQUyy62V0CCDorHzr4WWyAyt2ZL83O3dBv9vxJhU76LBrtMD-jGqGipJK0pnsNqBJvgYA7ZqG1yvw6QoqDeD6t2getOjoFLvBpWYe2f7A2PTo_1o7ZTN-Y99rqPRXRv0YFw8YFVZUCbLGfu1w3CW8d9hUNE4HAxaF9AkZb375JFXS0iN5A</recordid><startdate>19910601</startdate><enddate>19910601</enddate><creator>Gibson, K.M.</creator><creator>Sherwood, W.G.</creator><creator>Hoffmann, G.F.</creator><creator>Stumpf, D.A.</creator><creator>Dianzanl, I.</creator><creator>Schutgens, R.B.H.</creator><creator>Barth, P.G.</creator><creator>Weismann, U.</creator><creator>Bachmann, C.</creator><creator>Schrynemackers-Pitance, P.</creator><creator>Verloes, A.</creator><creator>Narisawa, K.</creator><creator>Mino, M.</creator><creator>Ohya, N.</creator><creator>Kelley, R.I.</creator><general>Mosby, Inc</general><general>Elsevier</general><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>19910601</creationdate><title>Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria</title><author>Gibson, K.M. ; Sherwood, W.G. ; Hoffmann, G.F. ; Stumpf, D.A. ; Dianzanl, I. ; Schutgens, R.B.H. ; Barth, P.G. ; Weismann, U. ; Bachmann, C. ; Schrynemackers-Pitance, P. ; Verloes, A. ; Narisawa, K. ; Mino, M. ; Ohya, N. ; Kelley, R.I.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c389t-176baba68fdcf063e469aa18ee1ef38de72597e3d6dd90be302bd1022a9e3c183</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1991</creationdate><topic>Amino Acid Metabolism, Inborn Errors - enzymology</topic><topic>Amino Acid Metabolism, Inborn Errors - genetics</topic><topic>Amino Acid Metabolism, Inborn Errors - urine</topic><topic>Biological and medical sciences</topic><topic>Coenzyme A - metabolism</topic><topic>Glutarates - metabolism</topic><topic>Glutarates - urine</topic><topic>Humans</topic><topic>Hydroxymethylglutaryl CoA Reductases</topic><topic>Medical sciences</topic><topic>Meglutol - analogs & derivatives</topic><topic>Meglutol - metabolism</topic><topic>Meglutol - urine</topic><topic>Metabolic diseases</topic><topic>Phenotype</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Gibson, K.M.</creatorcontrib><creatorcontrib>Sherwood, W.G.</creatorcontrib><creatorcontrib>Hoffmann, G.F.</creatorcontrib><creatorcontrib>Stumpf, D.A.</creatorcontrib><creatorcontrib>Dianzanl, I.</creatorcontrib><creatorcontrib>Schutgens, R.B.H.</creatorcontrib><creatorcontrib>Barth, P.G.</creatorcontrib><creatorcontrib>Weismann, U.</creatorcontrib><creatorcontrib>Bachmann, C.</creatorcontrib><creatorcontrib>Schrynemackers-Pitance, P.</creatorcontrib><creatorcontrib>Verloes, A.</creatorcontrib><creatorcontrib>Narisawa, K.</creatorcontrib><creatorcontrib>Mino, M.</creatorcontrib><creatorcontrib>Ohya, N.</creatorcontrib><creatorcontrib>Kelley, R.I.</creatorcontrib><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>The Journal of pediatrics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Gibson, K.M.</au><au>Sherwood, W.G.</au><au>Hoffmann, G.F.</au><au>Stumpf, D.A.</au><au>Dianzanl, I.</au><au>Schutgens, R.B.H.</au><au>Barth, P.G.</au><au>Weismann, U.</au><au>Bachmann, C.</au><au>Schrynemackers-Pitance, P.</au><au>Verloes, A.</au><au>Narisawa, K.</au><au>Mino, M.</au><au>Ohya, N.</au><au>Kelley, R.I.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria</atitle><jtitle>The Journal of pediatrics</jtitle><addtitle>J Pediatr</addtitle><date>1991-06-01</date><risdate>1991</risdate><volume>118</volume><issue>6</issue><spage>885</spage><epage>890</epage><pages>885-890</pages><issn>0022-3476</issn><eissn>1097-6833</eissn><coden>JOPDAB</coden><abstract>Combined 3-methylglutaconic and 3-methylglutaric aciduria, one of the more common urinary organic acid abnormalities, has been observed in at least three clinical syndromes. We studied an additional seven patients with 3-methylglutaconic aciduria, four of whom were best categorized as having the type II syndrome, two as having an “unspecified” syndrome, and one who may have had a primary urea cycle defect. In cultured cells and autopsy tissues derived from patients with the type II and unspecified syndromes, we were unsuccessful In identifying a defect in the leucine degradative pathway distal to 3-methylcrotonyl-coenzyme A carboxylase and in the cholesterol biosynthetic pathway between 3-hydroxy-3-methylglutaryl-coenzyme A reductase and diphosphom-evalonate decarboxylase. Further assessment of the cholesterol biosynthetic pathway in several patients with one of the two types of disease also provided no defined abnormality. The primary metabolic defects in the type II and unspecified syndromes remain undefined.</abstract><cop>New York, NY</cop><pub>Mosby, Inc</pub><pmid>1710267</pmid><doi>10.1016/S0022-3476(05)82199-7</doi><tpages>6</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0022-3476 |
| ispartof | The Journal of pediatrics, 1991-06, Vol.118 (6), p.885-890 |
| issn | 0022-3476 1097-6833 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_80591511 |
| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Amino Acid Metabolism, Inborn Errors - enzymology Amino Acid Metabolism, Inborn Errors - genetics Amino Acid Metabolism, Inborn Errors - urine Biological and medical sciences Coenzyme A - metabolism Glutarates - metabolism Glutarates - urine Humans Hydroxymethylglutaryl CoA Reductases Medical sciences Meglutol - analogs & derivatives Meglutol - metabolism Meglutol - urine Metabolic diseases Phenotype |
| title | Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-18T09%3A57%3A08IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Phenotypic%20heterogeneity%20in%20the%20syndromes%20of%203-methylglutaconic%20aciduria&rft.jtitle=The%20Journal%20of%20pediatrics&rft.au=Gibson,%20K.M.&rft.date=1991-06-01&rft.volume=118&rft.issue=6&rft.spage=885&rft.epage=890&rft.pages=885-890&rft.issn=0022-3476&rft.eissn=1097-6833&rft.coden=JOPDAB&rft_id=info:doi/10.1016/S0022-3476(05)82199-7&rft_dat=%3Cproquest_cross%3E80591511%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=80591511&rft_id=info:pmid/1710267&rft_els_id=S0022347605821997&rfr_iscdi=true |