Studies on a Case of HHH-Syndrome (Hyperammonemia, Hyperornithinemia, Homocitrullinuria)
Abstract A patient with the hyperornithinemia, hyperammonemia, homocitrullinuria syndrome is described. This patient represents the 12th documented case of this rare, presumably autosomal recessive condition. Increased levels of ammonia, ornithine and homocitrulline were demonstrated in blood and ce...
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Veröffentlicht in: | Neuropediatrics 1986-02, Vol.17 (1), p.48-52 |
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creator | Hommes, F. A. Roesel, R. A. Metoki, K. Hartlage, P. L. Dyken, P. R. |
description | Abstract
A patient with the hyperornithinemia, hyperammonemia, homocitrullinuria syndrome is described. This patient represents the 12th documented case of this rare, presumably autosomal recessive condition. Increased levels of ammonia, ornithine and homocitrulline were demonstrated in blood and cerebrospinal fluid. The blood ammonia concentration could be lowered by supplementation of the diet with low doses of arginine. High doses of arginine precipitated seizures, although plasma levels of arginine and ornithine were not altered. The uptake of ornithine by the particulate fraction of the patient's fibroblasts was lower than that of controls, but still measurable. It is suggested that HHH patients have a partial impairment of the uptake of ornithine by mitochondria. |
doi_str_mv | 10.1055/s-2008-1052499 |
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A patient with the hyperornithinemia, hyperammonemia, homocitrullinuria syndrome is described. This patient represents the 12th documented case of this rare, presumably autosomal recessive condition. Increased levels of ammonia, ornithine and homocitrulline were demonstrated in blood and cerebrospinal fluid. The blood ammonia concentration could be lowered by supplementation of the diet with low doses of arginine. High doses of arginine precipitated seizures, although plasma levels of arginine and ornithine were not altered. The uptake of ornithine by the particulate fraction of the patient's fibroblasts was lower than that of controls, but still measurable. It is suggested that HHH patients have a partial impairment of the uptake of ornithine by mitochondria.</description><identifier>ISSN: 0174-304X</identifier><identifier>EISSN: 1439-1899</identifier><identifier>DOI: 10.1055/s-2008-1052499</identifier><identifier>PMID: 3960284</identifier><identifier>CODEN: NRPDDB</identifier><language>eng</language><publisher>Stuttgart: Thieme</publisher><subject>Amino Acid Metabolism, Inborn Errors - metabolism ; Amino Acids - metabolism ; Aminoacid disorders ; Ammonia - metabolism ; Biological and medical sciences ; Biological Transport ; CASE REPORTS ; Child, Preschool ; Citrulline - analogs & derivatives ; Citrulline - urine ; Errors of metabolism ; Fibroblasts - metabolism ; Follow-Up Studies ; Humans ; Kinetics ; Male ; Medical sciences ; Metabolic diseases ; Ornithine - metabolism ; Psychomotor Disorders - metabolism ; Seizures - metabolism ; Syndrome</subject><ispartof>Neuropediatrics, 1986-02, Vol.17 (1), p.48-52</ispartof><rights>Georg Thieme Verlag KG Stuttgart · New York</rights><rights>1986 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c357t-a20b4b561a4074b972ef53fbd9d5def5a10890370dbb57816172b07687133b323</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-2008-1052499.pdf$$EPDF$$P50$$Gthieme$$H</linktopdf><link.rule.ids>314,777,781,3004,3005,27905,27906,54540</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=8744882$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/3960284$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Hommes, F. A.</creatorcontrib><creatorcontrib>Roesel, R. A.</creatorcontrib><creatorcontrib>Metoki, K.</creatorcontrib><creatorcontrib>Hartlage, P. L.</creatorcontrib><creatorcontrib>Dyken, P. R.</creatorcontrib><title>Studies on a Case of HHH-Syndrome (Hyperammonemia, Hyperornithinemia, Homocitrullinuria)</title><title>Neuropediatrics</title><addtitle>Neuropediatrics</addtitle><description>Abstract
A patient with the hyperornithinemia, hyperammonemia, homocitrullinuria syndrome is described. This patient represents the 12th documented case of this rare, presumably autosomal recessive condition. Increased levels of ammonia, ornithine and homocitrulline were demonstrated in blood and cerebrospinal fluid. The blood ammonia concentration could be lowered by supplementation of the diet with low doses of arginine. High doses of arginine precipitated seizures, although plasma levels of arginine and ornithine were not altered. The uptake of ornithine by the particulate fraction of the patient's fibroblasts was lower than that of controls, but still measurable. It is suggested that HHH patients have a partial impairment of the uptake of ornithine by mitochondria.</description><subject>Amino Acid Metabolism, Inborn Errors - metabolism</subject><subject>Amino Acids - metabolism</subject><subject>Aminoacid disorders</subject><subject>Ammonia - metabolism</subject><subject>Biological and medical sciences</subject><subject>Biological Transport</subject><subject>CASE REPORTS</subject><subject>Child, Preschool</subject><subject>Citrulline - analogs & derivatives</subject><subject>Citrulline - urine</subject><subject>Errors of metabolism</subject><subject>Fibroblasts - metabolism</subject><subject>Follow-Up Studies</subject><subject>Humans</subject><subject>Kinetics</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Ornithine - metabolism</subject><subject>Psychomotor Disorders - metabolism</subject><subject>Seizures - metabolism</subject><subject>Syndrome</subject><issn>0174-304X</issn><issn>1439-1899</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1986</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kMFr2zAUh8VoydJ0190GPozRQpU-WbIlHUtY60Kgh7TQm5BsmalYVibZh_z3dRavt57ee3qffhIfQt8JrAkUxW3COYDAU58zKb-gJWFUYiKkPENLIJxhCuz1K7pI6Q2AMAnlAi2oLCEXbIled8PYOJuy0Gc62-hks9BmVVXh3aFvYvA2u6oOexu196G33umb7N8cYu-GP-7_UfChdkMcu871Y3T6-hKdt7pL9ttcV-jl_vfzpsLbp4fHzd0W17TgA9Y5GGaKkmgGnBnJc9sWtDWNbIpmajUBIYFyaIwpuCAl4bkBXgpOKDU0pyv065S7j-HvaNOgvEu17Trd2zAmxUtelgWRE7g-gXUMKUXbqn10XseDIqCOKlVSR5VqVjld-DEnj8bb5gOf3U37n_Nep1p3bdR97dIHJjhjQhw_iE_YZMt6q97CGPvJyGfPvgOpiYhl</recordid><startdate>19860201</startdate><enddate>19860201</enddate><creator>Hommes, F. A.</creator><creator>Roesel, R. A.</creator><creator>Metoki, K.</creator><creator>Hartlage, P. L.</creator><creator>Dyken, P. R.</creator><general>Thieme</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>19860201</creationdate><title>Studies on a Case of HHH-Syndrome (Hyperammonemia, Hyperornithinemia, Homocitrullinuria)</title><author>Hommes, F. A. ; Roesel, R. A. ; Metoki, K. ; Hartlage, P. L. ; Dyken, P. R.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c357t-a20b4b561a4074b972ef53fbd9d5def5a10890370dbb57816172b07687133b323</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1986</creationdate><topic>Amino Acid Metabolism, Inborn Errors - metabolism</topic><topic>Amino Acids - metabolism</topic><topic>Aminoacid disorders</topic><topic>Ammonia - metabolism</topic><topic>Biological and medical sciences</topic><topic>Biological Transport</topic><topic>CASE REPORTS</topic><topic>Child, Preschool</topic><topic>Citrulline - analogs & derivatives</topic><topic>Citrulline - urine</topic><topic>Errors of metabolism</topic><topic>Fibroblasts - metabolism</topic><topic>Follow-Up Studies</topic><topic>Humans</topic><topic>Kinetics</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Ornithine - metabolism</topic><topic>Psychomotor Disorders - metabolism</topic><topic>Seizures - metabolism</topic><topic>Syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Hommes, F. A.</creatorcontrib><creatorcontrib>Roesel, R. A.</creatorcontrib><creatorcontrib>Metoki, K.</creatorcontrib><creatorcontrib>Hartlage, P. L.</creatorcontrib><creatorcontrib>Dyken, P. R.</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>Neuropediatrics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hommes, F. A.</au><au>Roesel, R. A.</au><au>Metoki, K.</au><au>Hartlage, P. L.</au><au>Dyken, P. R.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Studies on a Case of HHH-Syndrome (Hyperammonemia, Hyperornithinemia, Homocitrullinuria)</atitle><jtitle>Neuropediatrics</jtitle><addtitle>Neuropediatrics</addtitle><date>1986-02-01</date><risdate>1986</risdate><volume>17</volume><issue>1</issue><spage>48</spage><epage>52</epage><pages>48-52</pages><issn>0174-304X</issn><eissn>1439-1899</eissn><coden>NRPDDB</coden><abstract>Abstract
A patient with the hyperornithinemia, hyperammonemia, homocitrullinuria syndrome is described. This patient represents the 12th documented case of this rare, presumably autosomal recessive condition. Increased levels of ammonia, ornithine and homocitrulline were demonstrated in blood and cerebrospinal fluid. The blood ammonia concentration could be lowered by supplementation of the diet with low doses of arginine. High doses of arginine precipitated seizures, although plasma levels of arginine and ornithine were not altered. The uptake of ornithine by the particulate fraction of the patient's fibroblasts was lower than that of controls, but still measurable. It is suggested that HHH patients have a partial impairment of the uptake of ornithine by mitochondria.</abstract><cop>Stuttgart</cop><pub>Thieme</pub><pmid>3960284</pmid><doi>10.1055/s-2008-1052499</doi><tpages>5</tpages></addata></record> |
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subjects | Amino Acid Metabolism, Inborn Errors - metabolism Amino Acids - metabolism Aminoacid disorders Ammonia - metabolism Biological and medical sciences Biological Transport CASE REPORTS Child, Preschool Citrulline - analogs & derivatives Citrulline - urine Errors of metabolism Fibroblasts - metabolism Follow-Up Studies Humans Kinetics Male Medical sciences Metabolic diseases Ornithine - metabolism Psychomotor Disorders - metabolism Seizures - metabolism Syndrome |
title | Studies on a Case of HHH-Syndrome (Hyperammonemia, Hyperornithinemia, Homocitrullinuria) |
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