Infantile Refsum's disease: Biochemical findings suggesting multiple peroxisomal dysfunction
Infantile Refsum's disease was diagnosed in three male patients, presenting with facial dysmorphia, retinitis pigmentosa, neurosensory hearing loss, hepatomegaly, osteopenia and delayed growth and psychomotor development. An elevated plasma phytanic acid concentration and a deficient phytanic a...
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| Veröffentlicht in: | Journal of inherited metabolic disease 1986-06, Vol.9 (2), p.169-174 |
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| container_title | Journal of inherited metabolic disease |
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| creator | Poll‐The, B. T. Saudubray, J. M. Ogier, H. Schutgens, R. B. H. Wanders, R. J. A. Schrakamp, G. Bosch, H. Trijbels, J. M. F. Poulos, A. Moser, H. W. Eldere, J. Eyssen, H. J. |
| description | Infantile Refsum's disease was diagnosed in three male patients, presenting with facial dysmorphia, retinitis pigmentosa, neurosensory hearing loss, hepatomegaly, osteopenia and delayed growth and psychomotor development.
An elevated plasma phytanic acid concentration and a deficient phytanic acid oxidase activity in fibroblasts were found with an accumulation of very long chain fatty acids in plasma and fibroblasts. There were elevated pipecolic acid levels in plasma, urine and CSF, and abnormal bile acid metabolites in plasma.
Deficient activity of acylCoA: dihydroxyacetone phosphate acyl transferase was found in thrombocytes and fibroblasts of these patients as well as an impairedde novo plasmalogen biosynthesis in fibroblasts. These biochemical abnormalities, previously described in the Zellweger syndrome, suggest multiple peroxisomal dysfunction in our patients. |
| doi_str_mv | 10.1007/BF01799455 |
| format | Article |
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An elevated plasma phytanic acid concentration and a deficient phytanic acid oxidase activity in fibroblasts were found with an accumulation of very long chain fatty acids in plasma and fibroblasts. There were elevated pipecolic acid levels in plasma, urine and CSF, and abnormal bile acid metabolites in plasma.
Deficient activity of acylCoA: dihydroxyacetone phosphate acyl transferase was found in thrombocytes and fibroblasts of these patients as well as an impairedde novo plasmalogen biosynthesis in fibroblasts. These biochemical abnormalities, previously described in the Zellweger syndrome, suggest multiple peroxisomal dysfunction in our patients.</description><identifier>ISSN: 0141-8955</identifier><identifier>EISSN: 1573-2665</identifier><identifier>DOI: 10.1007/BF01799455</identifier><identifier>PMID: 2427795</identifier><identifier>CODEN: JIMDDP</identifier><language>eng</language><publisher>Dordrecht: Kluwer Academic Publishers</publisher><subject>Acyltransferases - deficiency ; Bile Acids and Salts - blood ; Biological and medical sciences ; Blood Platelets - enzymology ; Child ; Errors of metabolism ; Fatty Acids - blood ; Fatty Acids - metabolism ; Fibroblasts - metabolism ; Humans ; Lipids (lysosomal enzyme disorders, storage diseases) ; Male ; Medical sciences ; Metabolic diseases ; Microbodies - physiology ; Mixed Function Oxygenases ; Oxidoreductases - deficiency ; Phytanic Acid - blood ; Phytanic Acid - deficiency ; Pipecolic Acids - blood ; Pipecolic Acids - urine ; Plasmalogens - metabolism ; Refsum Disease - metabolism</subject><ispartof>Journal of inherited metabolic disease, 1986-06, Vol.9 (2), p.169-174</ispartof><rights>1986 SSIEM</rights><rights>1986 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3529-426e07df8e57aa8b0015665addd2cbd38056fce4c9264ebd3b5ce381910dca993</citedby><cites>FETCH-LOGICAL-c3529-426e07df8e57aa8b0015665addd2cbd38056fce4c9264ebd3b5ce381910dca993</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=8799566$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/2427795$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Poll‐The, B. T.</creatorcontrib><creatorcontrib>Saudubray, J. M.</creatorcontrib><creatorcontrib>Ogier, H.</creatorcontrib><creatorcontrib>Schutgens, R. B. H.</creatorcontrib><creatorcontrib>Wanders, R. J. A.</creatorcontrib><creatorcontrib>Schrakamp, G.</creatorcontrib><creatorcontrib>Bosch, H.</creatorcontrib><creatorcontrib>Trijbels, J. M. F.</creatorcontrib><creatorcontrib>Poulos, A.</creatorcontrib><creatorcontrib>Moser, H. W.</creatorcontrib><creatorcontrib>Eldere, J.</creatorcontrib><creatorcontrib>Eyssen, H. J.</creatorcontrib><title>Infantile Refsum's disease: Biochemical findings suggesting multiple peroxisomal dysfunction</title><title>Journal of inherited metabolic disease</title><addtitle>J Inherit Metab Dis</addtitle><description>Infantile Refsum's disease was diagnosed in three male patients, presenting with facial dysmorphia, retinitis pigmentosa, neurosensory hearing loss, hepatomegaly, osteopenia and delayed growth and psychomotor development.
An elevated plasma phytanic acid concentration and a deficient phytanic acid oxidase activity in fibroblasts were found with an accumulation of very long chain fatty acids in plasma and fibroblasts. There were elevated pipecolic acid levels in plasma, urine and CSF, and abnormal bile acid metabolites in plasma.
Deficient activity of acylCoA: dihydroxyacetone phosphate acyl transferase was found in thrombocytes and fibroblasts of these patients as well as an impairedde novo plasmalogen biosynthesis in fibroblasts. These biochemical abnormalities, previously described in the Zellweger syndrome, suggest multiple peroxisomal dysfunction in our patients.</description><subject>Acyltransferases - deficiency</subject><subject>Bile Acids and Salts - blood</subject><subject>Biological and medical sciences</subject><subject>Blood Platelets - enzymology</subject><subject>Child</subject><subject>Errors of metabolism</subject><subject>Fatty Acids - blood</subject><subject>Fatty Acids - metabolism</subject><subject>Fibroblasts - metabolism</subject><subject>Humans</subject><subject>Lipids (lysosomal enzyme disorders, storage diseases)</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Microbodies - physiology</subject><subject>Mixed Function Oxygenases</subject><subject>Oxidoreductases - deficiency</subject><subject>Phytanic Acid - blood</subject><subject>Phytanic Acid - deficiency</subject><subject>Pipecolic Acids - blood</subject><subject>Pipecolic Acids - urine</subject><subject>Plasmalogens - metabolism</subject><subject>Refsum Disease - metabolism</subject><issn>0141-8955</issn><issn>1573-2665</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1986</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kMtLxDAQh4Mouj4u3oUeREGoTtqmabz5dmVFEL0JJZtM1kgfa2eL7n9vZJf15ikh8-U3Mx9j-xxOOYA8u7wFLpXKhFhjAy5kGid5LtbZAHjG40IJscW2iT4AQBVCbLLNJEukVGLA3oaN083MVxg9o6O-PqbIekJNeB5d-ta8Y-2NriLnG-ubCUXUTyZIs3CP6r6a-Wn4OsWu_fbU1gG0c3J9Y2a-bXbZhtMV4d7y3GGvtzcvV_fx6OlueHUxik0qEhVnSY4grStQSK2LMQAXYX5trU3M2KYFiNwZzIxK8gzDw1gYTAuuOFijlUp32NEid9q1n30Yrqw9Gawq3WDbUykl8KSALIAnC9B0LVGHrpx2vtbdvORQ_qos_1QG-GCZ2o9rtCt06S7UD5d1TcGQ63RjPK2wIsSENQIGC-wrSJ7_07B8GD5eA89V-gMS4orM</recordid><startdate>198606</startdate><enddate>198606</enddate><creator>Poll‐The, B. T.</creator><creator>Saudubray, J. M.</creator><creator>Ogier, H.</creator><creator>Schutgens, R. B. H.</creator><creator>Wanders, R. J. A.</creator><creator>Schrakamp, G.</creator><creator>Bosch, H.</creator><creator>Trijbels, J. M. F.</creator><creator>Poulos, A.</creator><creator>Moser, H. W.</creator><creator>Eldere, J.</creator><creator>Eyssen, H. J.</creator><general>Kluwer Academic Publishers</general><general>Springer</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>198606</creationdate><title>Infantile Refsum's disease: Biochemical findings suggesting multiple peroxisomal dysfunction</title><author>Poll‐The, B. T. ; Saudubray, J. M. ; Ogier, H. ; Schutgens, R. B. H. ; Wanders, R. J. A. ; Schrakamp, G. ; Bosch, H. ; Trijbels, J. M. F. ; Poulos, A. ; Moser, H. W. ; Eldere, J. ; Eyssen, H. J.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3529-426e07df8e57aa8b0015665addd2cbd38056fce4c9264ebd3b5ce381910dca993</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1986</creationdate><topic>Acyltransferases - deficiency</topic><topic>Bile Acids and Salts - blood</topic><topic>Biological and medical sciences</topic><topic>Blood Platelets - enzymology</topic><topic>Child</topic><topic>Errors of metabolism</topic><topic>Fatty Acids - blood</topic><topic>Fatty Acids - metabolism</topic><topic>Fibroblasts - metabolism</topic><topic>Humans</topic><topic>Lipids (lysosomal enzyme disorders, storage diseases)</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Microbodies - physiology</topic><topic>Mixed Function Oxygenases</topic><topic>Oxidoreductases - deficiency</topic><topic>Phytanic Acid - blood</topic><topic>Phytanic Acid - deficiency</topic><topic>Pipecolic Acids - blood</topic><topic>Pipecolic Acids - urine</topic><topic>Plasmalogens - metabolism</topic><topic>Refsum Disease - metabolism</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Poll‐The, B. T.</creatorcontrib><creatorcontrib>Saudubray, J. M.</creatorcontrib><creatorcontrib>Ogier, H.</creatorcontrib><creatorcontrib>Schutgens, R. B. H.</creatorcontrib><creatorcontrib>Wanders, R. J. A.</creatorcontrib><creatorcontrib>Schrakamp, G.</creatorcontrib><creatorcontrib>Bosch, H.</creatorcontrib><creatorcontrib>Trijbels, J. M. F.</creatorcontrib><creatorcontrib>Poulos, A.</creatorcontrib><creatorcontrib>Moser, H. W.</creatorcontrib><creatorcontrib>Eldere, J.</creatorcontrib><creatorcontrib>Eyssen, H. J.</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>Journal of inherited metabolic disease</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Poll‐The, B. T.</au><au>Saudubray, J. M.</au><au>Ogier, H.</au><au>Schutgens, R. B. H.</au><au>Wanders, R. J. A.</au><au>Schrakamp, G.</au><au>Bosch, H.</au><au>Trijbels, J. M. F.</au><au>Poulos, A.</au><au>Moser, H. W.</au><au>Eldere, J.</au><au>Eyssen, H. J.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Infantile Refsum's disease: Biochemical findings suggesting multiple peroxisomal dysfunction</atitle><jtitle>Journal of inherited metabolic disease</jtitle><addtitle>J Inherit Metab Dis</addtitle><date>1986-06</date><risdate>1986</risdate><volume>9</volume><issue>2</issue><spage>169</spage><epage>174</epage><pages>169-174</pages><issn>0141-8955</issn><eissn>1573-2665</eissn><coden>JIMDDP</coden><abstract>Infantile Refsum's disease was diagnosed in three male patients, presenting with facial dysmorphia, retinitis pigmentosa, neurosensory hearing loss, hepatomegaly, osteopenia and delayed growth and psychomotor development.
An elevated plasma phytanic acid concentration and a deficient phytanic acid oxidase activity in fibroblasts were found with an accumulation of very long chain fatty acids in plasma and fibroblasts. There were elevated pipecolic acid levels in plasma, urine and CSF, and abnormal bile acid metabolites in plasma.
Deficient activity of acylCoA: dihydroxyacetone phosphate acyl transferase was found in thrombocytes and fibroblasts of these patients as well as an impairedde novo plasmalogen biosynthesis in fibroblasts. These biochemical abnormalities, previously described in the Zellweger syndrome, suggest multiple peroxisomal dysfunction in our patients.</abstract><cop>Dordrecht</cop><pub>Kluwer Academic Publishers</pub><pmid>2427795</pmid><doi>10.1007/BF01799455</doi><tpages>6</tpages></addata></record> |
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| ispartof | Journal of inherited metabolic disease, 1986-06, Vol.9 (2), p.169-174 |
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| language | eng |
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| source | MEDLINE; SpringerLink Journals - AutoHoldings |
| subjects | Acyltransferases - deficiency Bile Acids and Salts - blood Biological and medical sciences Blood Platelets - enzymology Child Errors of metabolism Fatty Acids - blood Fatty Acids - metabolism Fibroblasts - metabolism Humans Lipids (lysosomal enzyme disorders, storage diseases) Male Medical sciences Metabolic diseases Microbodies - physiology Mixed Function Oxygenases Oxidoreductases - deficiency Phytanic Acid - blood Phytanic Acid - deficiency Pipecolic Acids - blood Pipecolic Acids - urine Plasmalogens - metabolism Refsum Disease - metabolism |
| title | Infantile Refsum's disease: Biochemical findings suggesting multiple peroxisomal dysfunction |
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