Cranial computerized tomography in dihydropteridine reductase deficiency
Dihydropteridine reductase deficiency is a rare cause of hyperphenylalaninaemia, characterized by severe and progressive neurological impairment, despite early and accurate dietary control of plasma phenylalanine. We describe two girls, diagnosed at 17 and 14 months of age, respectively, and immedia...
Gespeichert in:
| Veröffentlicht in: | Journal of inherited metabolic disease 1985-09, Vol.8 (3), p.109-112 |
|---|---|
| Hauptverfasser: | , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 112 |
|---|---|
| container_issue | 3 |
| container_start_page | 109 |
| container_title | Journal of inherited metabolic disease |
| container_volume | 8 |
| creator | Longhi, R. Valsasina, R. Buttè, C. Paccanelli, S. Riva, E. Giovannini, M. |
| description | Dihydropteridine reductase deficiency is a rare cause of hyperphenylalaninaemia, characterized by severe and progressive neurological impairment, despite early and accurate dietary control of plasma phenylalanine. We describe two girls, diagnosed at 17 and 14 months of age, respectively, and immediately treated withl‐dopa, 5‐hydroxytryptophan and carbidopa. In spite of an adequate dietary and pharmacological treatment, the clinical and neurological pictures progressively worsened. Repeated cranial computerized axial tomography scans showed degeneration of the white matter and, in one case, calcification of the basal ganglia. The possible association of this last finding with folate depletion is discussed. |
| doi_str_mv | 10.1007/BF01819291 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_76657265</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>76657265</sourcerecordid><originalsourceid>FETCH-LOGICAL-c3529-235378e3b75ab42e16151b9ddbb9025eafd11e00c4d01c5a10393628f04fef913</originalsourceid><addsrcrecordid>eNp9kLtOxDAQRS0EguXR0COlQBRIgRk7TuISlrdANFBHjj0Bo7ywN0Lh68lqV9BRTXGP7tUcxg4RzhAgO7-8AcxRcYUbbIYyEzFPU7nJZoAJxrmScofthvABACqXcptt80SIRKkZu5t73TpdR6Zr-mFB3n2TjRZd07153b-PkWsj695H67t-mVrXUuTJDmahA0WWKmcctWbcZ1uVrgMdrO8ee725fpnfxY_Pt_fzi8fYCMlVzIUUWU6izKQuE06YosRSWVuWCrgkXVlEAjCJBTRSIwglUp5XkFRUKRR77GTV2_vuc6CwKBoXDNW1bqkbQpFNn2c8lRN4ugKN70LwVBW9d432Y4FQLLUVf9om-GjdOpQN2V907WnKj9e5DkbX1STNuPCL5SlykS1rYIV9uZrGfwaLh_unK0BQ4gcOm4J6</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>76657265</pqid></control><display><type>article</type><title>Cranial computerized tomography in dihydropteridine reductase deficiency</title><source>MEDLINE</source><source>SpringerLink Journals</source><creator>Longhi, R. ; Valsasina, R. ; Buttè, C. ; Paccanelli, S. ; Riva, E. ; Giovannini, M.</creator><creatorcontrib>Longhi, R. ; Valsasina, R. ; Buttè, C. ; Paccanelli, S. ; Riva, E. ; Giovannini, M.</creatorcontrib><description>Dihydropteridine reductase deficiency is a rare cause of hyperphenylalaninaemia, characterized by severe and progressive neurological impairment, despite early and accurate dietary control of plasma phenylalanine. We describe two girls, diagnosed at 17 and 14 months of age, respectively, and immediately treated withl‐dopa, 5‐hydroxytryptophan and carbidopa. In spite of an adequate dietary and pharmacological treatment, the clinical and neurological pictures progressively worsened. Repeated cranial computerized axial tomography scans showed degeneration of the white matter and, in one case, calcification of the basal ganglia. The possible association of this last finding with folate depletion is discussed.</description><identifier>ISSN: 0141-8955</identifier><identifier>EISSN: 1573-2665</identifier><identifier>DOI: 10.1007/BF01819291</identifier><identifier>PMID: 2433499</identifier><identifier>CODEN: JIMDDP</identifier><language>eng</language><publisher>Dordrecht: Kluwer Academic Publishers</publisher><subject>Amino Acid Metabolism, Inborn Errors - diagnostic imaging ; Aminoacid disorders ; Atrophy ; Basal Ganglia Diseases - diagnostic imaging ; Biological and medical sciences ; Brain Diseases - diagnostic imaging ; Calcinosis - diagnostic imaging ; Developmental Disabilities - metabolism ; Errors of metabolism ; Female ; Humans ; Infant ; Medical sciences ; Metabolic diseases ; NADH, NADPH Oxidoreductases - deficiency ; Phenylalanine - blood ; Phenylketonurias ; Tomography, X-Ray Computed</subject><ispartof>Journal of inherited metabolic disease, 1985-09, Vol.8 (3), p.109-112</ispartof><rights>1985 SSIEM</rights><rights>1986 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3529-235378e3b75ab42e16151b9ddbb9025eafd11e00c4d01c5a10393628f04fef913</citedby><cites>FETCH-LOGICAL-c3529-235378e3b75ab42e16151b9ddbb9025eafd11e00c4d01c5a10393628f04fef913</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27903,27904</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=8612371$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/2433499$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Longhi, R.</creatorcontrib><creatorcontrib>Valsasina, R.</creatorcontrib><creatorcontrib>Buttè, C.</creatorcontrib><creatorcontrib>Paccanelli, S.</creatorcontrib><creatorcontrib>Riva, E.</creatorcontrib><creatorcontrib>Giovannini, M.</creatorcontrib><title>Cranial computerized tomography in dihydropteridine reductase deficiency</title><title>Journal of inherited metabolic disease</title><addtitle>J Inherit Metab Dis</addtitle><description>Dihydropteridine reductase deficiency is a rare cause of hyperphenylalaninaemia, characterized by severe and progressive neurological impairment, despite early and accurate dietary control of plasma phenylalanine. We describe two girls, diagnosed at 17 and 14 months of age, respectively, and immediately treated withl‐dopa, 5‐hydroxytryptophan and carbidopa. In spite of an adequate dietary and pharmacological treatment, the clinical and neurological pictures progressively worsened. Repeated cranial computerized axial tomography scans showed degeneration of the white matter and, in one case, calcification of the basal ganglia. The possible association of this last finding with folate depletion is discussed.</description><subject>Amino Acid Metabolism, Inborn Errors - diagnostic imaging</subject><subject>Aminoacid disorders</subject><subject>Atrophy</subject><subject>Basal Ganglia Diseases - diagnostic imaging</subject><subject>Biological and medical sciences</subject><subject>Brain Diseases - diagnostic imaging</subject><subject>Calcinosis - diagnostic imaging</subject><subject>Developmental Disabilities - metabolism</subject><subject>Errors of metabolism</subject><subject>Female</subject><subject>Humans</subject><subject>Infant</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>NADH, NADPH Oxidoreductases - deficiency</subject><subject>Phenylalanine - blood</subject><subject>Phenylketonurias</subject><subject>Tomography, X-Ray Computed</subject><issn>0141-8955</issn><issn>1573-2665</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1985</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kLtOxDAQRS0EguXR0COlQBRIgRk7TuISlrdANFBHjj0Bo7ywN0Lh68lqV9BRTXGP7tUcxg4RzhAgO7-8AcxRcYUbbIYyEzFPU7nJZoAJxrmScofthvABACqXcptt80SIRKkZu5t73TpdR6Zr-mFB3n2TjRZd07153b-PkWsj695H67t-mVrXUuTJDmahA0WWKmcctWbcZ1uVrgMdrO8ee725fpnfxY_Pt_fzi8fYCMlVzIUUWU6izKQuE06YosRSWVuWCrgkXVlEAjCJBTRSIwglUp5XkFRUKRR77GTV2_vuc6CwKBoXDNW1bqkbQpFNn2c8lRN4ugKN70LwVBW9d432Y4FQLLUVf9om-GjdOpQN2V907WnKj9e5DkbX1STNuPCL5SlykS1rYIV9uZrGfwaLh_unK0BQ4gcOm4J6</recordid><startdate>198509</startdate><enddate>198509</enddate><creator>Longhi, R.</creator><creator>Valsasina, R.</creator><creator>Buttè, C.</creator><creator>Paccanelli, S.</creator><creator>Riva, E.</creator><creator>Giovannini, M.</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>198509</creationdate><title>Cranial computerized tomography in dihydropteridine reductase deficiency</title><author>Longhi, R. ; Valsasina, R. ; Buttè, C. ; Paccanelli, S. ; Riva, E. ; Giovannini, M.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3529-235378e3b75ab42e16151b9ddbb9025eafd11e00c4d01c5a10393628f04fef913</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1985</creationdate><topic>Amino Acid Metabolism, Inborn Errors - diagnostic imaging</topic><topic>Aminoacid disorders</topic><topic>Atrophy</topic><topic>Basal Ganglia Diseases - diagnostic imaging</topic><topic>Biological and medical sciences</topic><topic>Brain Diseases - diagnostic imaging</topic><topic>Calcinosis - diagnostic imaging</topic><topic>Developmental Disabilities - metabolism</topic><topic>Errors of metabolism</topic><topic>Female</topic><topic>Humans</topic><topic>Infant</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>NADH, NADPH Oxidoreductases - deficiency</topic><topic>Phenylalanine - blood</topic><topic>Phenylketonurias</topic><topic>Tomography, X-Ray Computed</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Longhi, R.</creatorcontrib><creatorcontrib>Valsasina, R.</creatorcontrib><creatorcontrib>Buttè, C.</creatorcontrib><creatorcontrib>Paccanelli, S.</creatorcontrib><creatorcontrib>Riva, E.</creatorcontrib><creatorcontrib>Giovannini, M.</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>Longhi, R.</au><au>Valsasina, R.</au><au>Buttè, C.</au><au>Paccanelli, S.</au><au>Riva, E.</au><au>Giovannini, M.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Cranial computerized tomography in dihydropteridine reductase deficiency</atitle><jtitle>Journal of inherited metabolic disease</jtitle><addtitle>J Inherit Metab Dis</addtitle><date>1985-09</date><risdate>1985</risdate><volume>8</volume><issue>3</issue><spage>109</spage><epage>112</epage><pages>109-112</pages><issn>0141-8955</issn><eissn>1573-2665</eissn><coden>JIMDDP</coden><abstract>Dihydropteridine reductase deficiency is a rare cause of hyperphenylalaninaemia, characterized by severe and progressive neurological impairment, despite early and accurate dietary control of plasma phenylalanine. We describe two girls, diagnosed at 17 and 14 months of age, respectively, and immediately treated withl‐dopa, 5‐hydroxytryptophan and carbidopa. In spite of an adequate dietary and pharmacological treatment, the clinical and neurological pictures progressively worsened. Repeated cranial computerized axial tomography scans showed degeneration of the white matter and, in one case, calcification of the basal ganglia. The possible association of this last finding with folate depletion is discussed.</abstract><cop>Dordrecht</cop><pub>Kluwer Academic Publishers</pub><pmid>2433499</pmid><doi>10.1007/BF01819291</doi><tpages>4</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0141-8955 |
| ispartof | Journal of inherited metabolic disease, 1985-09, Vol.8 (3), p.109-112 |
| issn | 0141-8955 1573-2665 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_76657265 |
| source | MEDLINE; SpringerLink Journals |
| subjects | Amino Acid Metabolism, Inborn Errors - diagnostic imaging Aminoacid disorders Atrophy Basal Ganglia Diseases - diagnostic imaging Biological and medical sciences Brain Diseases - diagnostic imaging Calcinosis - diagnostic imaging Developmental Disabilities - metabolism Errors of metabolism Female Humans Infant Medical sciences Metabolic diseases NADH, NADPH Oxidoreductases - deficiency Phenylalanine - blood Phenylketonurias Tomography, X-Ray Computed |
| title | Cranial computerized tomography in dihydropteridine reductase deficiency |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-27T06%3A44%3A14IST&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=Cranial%20computerized%20tomography%20in%20dihydropteridine%20reductase%20deficiency&rft.jtitle=Journal%20of%20inherited%20metabolic%20disease&rft.au=Longhi,%20R.&rft.date=1985-09&rft.volume=8&rft.issue=3&rft.spage=109&rft.epage=112&rft.pages=109-112&rft.issn=0141-8955&rft.eissn=1573-2665&rft.coden=JIMDDP&rft_id=info:doi/10.1007/BF01819291&rft_dat=%3Cproquest_cross%3E76657265%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=76657265&rft_id=info:pmid/2433499&rfr_iscdi=true |