Neonatal glycine encephalopathy: Biochemical and neuropathologic findings
A patient with neonatal glycine encephalopathy who had severe neurologic retardation, spasticity, and seizures died at 17 years of age. Glycine concentration was markedly elevated in brain tissue, especially in the cerebellum. Neuropathologic study revealed spongy myelinopathy throughout the central...
Gespeichert in:
| Veröffentlicht in: | Pediatric neurology 1993-03, Vol.9 (2), p.140-143 |
|---|---|
| Hauptverfasser: | , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 143 |
|---|---|
| container_issue | 2 |
| container_start_page | 140 |
| container_title | Pediatric neurology |
| container_volume | 9 |
| creator | Agamanolis, Dimitris P. Potter, Joseph L. Lundgren, David W. |
| description | A patient with neonatal glycine encephalopathy who had severe neurologic retardation, spasticity, and seizures died at 17 years of age. Glycine concentration was markedly elevated in brain tissue, especially in the cerebellum. Neuropathologic study revealed spongy myelinopathy throughout the central nervous system and calcium oxalate crystals in the cerebellum, which are probably derived from degradation of glycine. Myelinopathy appeared to be static compared to neonatal patients. The neurologic manifestations of neonatal glycine encephalopathy are probably due to neurotransmitter abnormalities, not to myelin damage. |
| doi_str_mv | 10.1016/0887-8994(93)90051-D |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_75748960</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>088789949390051D</els_id><sourcerecordid>75748960</sourcerecordid><originalsourceid>FETCH-LOGICAL-c386t-7828cdf9f0df41c938a8997d52c284df44ce0e07dd83816877d45ca82822772b3</originalsourceid><addsrcrecordid>eNp9kE1LAzEQhoMoWj_-gcIeRPSwmmyym8SD4LeC6EXPISazbWSb1GQr9N-btaVHTwPzPu8wPAgdEnxOMGkusBC8FFKyU0nPJMY1Ke820IgITsua1HgTjdbIDtpN6QtnSFZsG20LJiVmbISeXyF43euuGHcL4zwU4A3MJroLM91PFpfFjQtmAlNnMqO9LTzM418WujB2pmidt86P0z7aanWX4GA199DHw_377VP58vb4fHv9Uhoqmr7kohLGtrLFtmXESCp0fpDbujKVYHnHDGDA3FpBBWkE55bVRudWVXFefdI9dLK8O4vhew6pV1OXDHSd9hDmSfGaMyEbnEG2BE0MKUVo1Sy6qY4LRbAaDKpBjxr0KEnVn0F1l2tHq_vzzynYdWmlLOfHq1yn7KSN2huX1hjjDaV4wK6WGGQXPw6iSsYNbq2LYHplg_v_j1-1G4zc</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>75748960</pqid></control><display><type>article</type><title>Neonatal glycine encephalopathy: Biochemical and neuropathologic findings</title><source>MEDLINE</source><source>ScienceDirect Journals (5 years ago - present)</source><creator>Agamanolis, Dimitris P. ; Potter, Joseph L. ; Lundgren, David W.</creator><creatorcontrib>Agamanolis, Dimitris P. ; Potter, Joseph L. ; Lundgren, David W.</creatorcontrib><description>A patient with neonatal glycine encephalopathy who had severe neurologic retardation, spasticity, and seizures died at 17 years of age. Glycine concentration was markedly elevated in brain tissue, especially in the cerebellum. Neuropathologic study revealed spongy myelinopathy throughout the central nervous system and calcium oxalate crystals in the cerebellum, which are probably derived from degradation of glycine. Myelinopathy appeared to be static compared to neonatal patients. The neurologic manifestations of neonatal glycine encephalopathy are probably due to neurotransmitter abnormalities, not to myelin damage.</description><identifier>ISSN: 0887-8994</identifier><identifier>EISSN: 1873-5150</identifier><identifier>DOI: 10.1016/0887-8994(93)90051-D</identifier><identifier>PMID: 8499044</identifier><language>eng</language><publisher>New York, NY: Elsevier Inc</publisher><subject>Adolescent ; Amino Acid Metabolism, Inborn Errors - genetics ; Amino Acid Metabolism, Inborn Errors - pathology ; Amino Acids - blood ; Aminoacid disorders ; Biological and medical sciences ; Brain - pathology ; Brain Diseases, Metabolic - genetics ; Brain Diseases, Metabolic - pathology ; Calcium Oxalate - blood ; Child ; Child, Preschool ; Crystallization ; Errors of metabolism ; Follow-Up Studies ; Glycine - blood ; Humans ; Infant ; Infant, Newborn ; Male ; Medical sciences ; Metabolic diseases ; Myelin Sheath - pathology ; Spinal Cord - pathology</subject><ispartof>Pediatric neurology, 1993-03, Vol.9 (2), p.140-143</ispartof><rights>1993</rights><rights>1993 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c386t-7828cdf9f0df41c938a8997d52c284df44ce0e07dd83816877d45ca82822772b3</citedby><cites>FETCH-LOGICAL-c386t-7828cdf9f0df41c938a8997d52c284df44ce0e07dd83816877d45ca82822772b3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/0887-8994(93)90051-D$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,3550,27924,27925,45995</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=4763304$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8499044$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Agamanolis, Dimitris P.</creatorcontrib><creatorcontrib>Potter, Joseph L.</creatorcontrib><creatorcontrib>Lundgren, David W.</creatorcontrib><title>Neonatal glycine encephalopathy: Biochemical and neuropathologic findings</title><title>Pediatric neurology</title><addtitle>Pediatr Neurol</addtitle><description>A patient with neonatal glycine encephalopathy who had severe neurologic retardation, spasticity, and seizures died at 17 years of age. Glycine concentration was markedly elevated in brain tissue, especially in the cerebellum. Neuropathologic study revealed spongy myelinopathy throughout the central nervous system and calcium oxalate crystals in the cerebellum, which are probably derived from degradation of glycine. Myelinopathy appeared to be static compared to neonatal patients. The neurologic manifestations of neonatal glycine encephalopathy are probably due to neurotransmitter abnormalities, not to myelin damage.</description><subject>Adolescent</subject><subject>Amino Acid Metabolism, Inborn Errors - genetics</subject><subject>Amino Acid Metabolism, Inborn Errors - pathology</subject><subject>Amino Acids - blood</subject><subject>Aminoacid disorders</subject><subject>Biological and medical sciences</subject><subject>Brain - pathology</subject><subject>Brain Diseases, Metabolic - genetics</subject><subject>Brain Diseases, Metabolic - pathology</subject><subject>Calcium Oxalate - blood</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Crystallization</subject><subject>Errors of metabolism</subject><subject>Follow-Up Studies</subject><subject>Glycine - blood</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Myelin Sheath - pathology</subject><subject>Spinal Cord - pathology</subject><issn>0887-8994</issn><issn>1873-5150</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1993</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kE1LAzEQhoMoWj_-gcIeRPSwmmyym8SD4LeC6EXPISazbWSb1GQr9N-btaVHTwPzPu8wPAgdEnxOMGkusBC8FFKyU0nPJMY1Ke820IgITsua1HgTjdbIDtpN6QtnSFZsG20LJiVmbISeXyF43euuGHcL4zwU4A3MJroLM91PFpfFjQtmAlNnMqO9LTzM418WujB2pmidt86P0z7aanWX4GA199DHw_377VP58vb4fHv9Uhoqmr7kohLGtrLFtmXESCp0fpDbujKVYHnHDGDA3FpBBWkE55bVRudWVXFefdI9dLK8O4vhew6pV1OXDHSd9hDmSfGaMyEbnEG2BE0MKUVo1Sy6qY4LRbAaDKpBjxr0KEnVn0F1l2tHq_vzzynYdWmlLOfHq1yn7KSN2huX1hjjDaV4wK6WGGQXPw6iSsYNbq2LYHplg_v_j1-1G4zc</recordid><startdate>19930301</startdate><enddate>19930301</enddate><creator>Agamanolis, Dimitris P.</creator><creator>Potter, Joseph L.</creator><creator>Lundgren, David W.</creator><general>Elsevier 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>19930301</creationdate><title>Neonatal glycine encephalopathy: Biochemical and neuropathologic findings</title><author>Agamanolis, Dimitris P. ; Potter, Joseph L. ; Lundgren, David W.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c386t-7828cdf9f0df41c938a8997d52c284df44ce0e07dd83816877d45ca82822772b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1993</creationdate><topic>Adolescent</topic><topic>Amino Acid Metabolism, Inborn Errors - genetics</topic><topic>Amino Acid Metabolism, Inborn Errors - pathology</topic><topic>Amino Acids - blood</topic><topic>Aminoacid disorders</topic><topic>Biological and medical sciences</topic><topic>Brain - pathology</topic><topic>Brain Diseases, Metabolic - genetics</topic><topic>Brain Diseases, Metabolic - pathology</topic><topic>Calcium Oxalate - blood</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Crystallization</topic><topic>Errors of metabolism</topic><topic>Follow-Up Studies</topic><topic>Glycine - blood</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Myelin Sheath - pathology</topic><topic>Spinal Cord - pathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Agamanolis, Dimitris P.</creatorcontrib><creatorcontrib>Potter, Joseph L.</creatorcontrib><creatorcontrib>Lundgren, David W.</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>Pediatric neurology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Agamanolis, Dimitris P.</au><au>Potter, Joseph L.</au><au>Lundgren, David W.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Neonatal glycine encephalopathy: Biochemical and neuropathologic findings</atitle><jtitle>Pediatric neurology</jtitle><addtitle>Pediatr Neurol</addtitle><date>1993-03-01</date><risdate>1993</risdate><volume>9</volume><issue>2</issue><spage>140</spage><epage>143</epage><pages>140-143</pages><issn>0887-8994</issn><eissn>1873-5150</eissn><abstract>A patient with neonatal glycine encephalopathy who had severe neurologic retardation, spasticity, and seizures died at 17 years of age. Glycine concentration was markedly elevated in brain tissue, especially in the cerebellum. Neuropathologic study revealed spongy myelinopathy throughout the central nervous system and calcium oxalate crystals in the cerebellum, which are probably derived from degradation of glycine. Myelinopathy appeared to be static compared to neonatal patients. The neurologic manifestations of neonatal glycine encephalopathy are probably due to neurotransmitter abnormalities, not to myelin damage.</abstract><cop>New York, NY</cop><pub>Elsevier Inc</pub><pmid>8499044</pmid><doi>10.1016/0887-8994(93)90051-D</doi><tpages>4</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0887-8994 |
| ispartof | Pediatric neurology, 1993-03, Vol.9 (2), p.140-143 |
| issn | 0887-8994 1873-5150 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_75748960 |
| source | MEDLINE; ScienceDirect Journals (5 years ago - present) |
| subjects | Adolescent Amino Acid Metabolism, Inborn Errors - genetics Amino Acid Metabolism, Inborn Errors - pathology Amino Acids - blood Aminoacid disorders Biological and medical sciences Brain - pathology Brain Diseases, Metabolic - genetics Brain Diseases, Metabolic - pathology Calcium Oxalate - blood Child Child, Preschool Crystallization Errors of metabolism Follow-Up Studies Glycine - blood Humans Infant Infant, Newborn Male Medical sciences Metabolic diseases Myelin Sheath - pathology Spinal Cord - pathology |
| title | Neonatal glycine encephalopathy: Biochemical and neuropathologic findings |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-08T05%3A51%3A22IST&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=Neonatal%20glycine%20encephalopathy:%20Biochemical%20and%20neuropathologic%20findings&rft.jtitle=Pediatric%20neurology&rft.au=Agamanolis,%20Dimitris%20P.&rft.date=1993-03-01&rft.volume=9&rft.issue=2&rft.spage=140&rft.epage=143&rft.pages=140-143&rft.issn=0887-8994&rft.eissn=1873-5150&rft_id=info:doi/10.1016/0887-8994(93)90051-D&rft_dat=%3Cproquest_cross%3E75748960%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=75748960&rft_id=info:pmid/8499044&rft_els_id=088789949390051D&rfr_iscdi=true |