{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T06:40:45Z","timestamp":1790836845862,"version":"4.1.0"},"reference-count":44,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2010,11,27]],"date-time":"2010-11-27T00:00:00Z","timestamp":1290816000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2012,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Propionic acidaemia (PA) is an inborn error of intermediary metabolism caused by deficiency of propionyl\u2010CoA carboxylase. The metabolic block leads to a profound failure of central metabolic pathways, including the urea and the citric acid cycles. This review will focus on changes in amino acid metabolism in this inborn disorder of metabolism. The first noted disturbance of amino acid metabolism was hyperglycinaemia, which is detectable in nearly all PA patients. Additionally, hyperlysinaemia is a common observation. In contrast, concentrations of branched chain amino acids, especially of isoleucine, are frequently reported as decreased. These non\u2010proportional changes of branched\u2010chain amino acids (BCAAs) compared with aromatic amino acids are also reflected by the Fischer's ratio (concentration ratio of BCAAs to aromatic amino acids), which is decreased in PA patients. As restricted dietary intake of valine and isoleucine as precursors of propionyl\u2010CoA is part of the standard treatment in PA, decreased plasma concentrations of BCAAs may be a side effect of treatment. The concentration changes of the nitrogen scavenger glutamine have to be interpreted in the light of ammonia levels. In contrast to other hyperammonaemic syndromes, in PA plasma glutamine concentrations do not increase in hyperammonaemia, whereas CSF glutamine concentrations are elevated. Despite lactic acidaemia in PA patients, hyperalaninaemia is only rarely reported. The mechanisms underlying the observed changes in amino acid metabolism have not yet been elucidated, but most of the changes can be at least partly interpreted as consequence of disturbance of anaplerosis.<\/jats:p>","DOI":"10.1007\/s10545-010-9245-9","type":"journal-article","created":{"date-parts":[[2010,11,26]],"date-time":"2010-11-26T07:18:08Z","timestamp":1290755888000},"page":"65-70","source":"Crossref","is-referenced-by-count":31,"title":["Amino acid metabolism in patients with propionic acidaemia"],"prefix":"10.1002","volume":"35","author":[{"given":"Sabine","family":"Scholl\u2010B\u00fcrgi","sequence":"first","affiliation":[{"name":"Department of Paediatrics IV, Division of Neonatology, Neuropaediatrics and Inherited Metabolic Disorders Innsbruck Medical University Anichstrasse 35 Innsbruck 6020 Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00f6rn Oliver","family":"Sass","sequence":"additional","affiliation":[{"name":"Labor f\u00fcr Klinische Biochemie und Stoffwechsel, Zentrum f\u00fcr Kinder\u2010 und Jugendmedizin Universit\u00e4tsklinikum Freiburg Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes","family":"Zschocke","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Innsbruck Medical University Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Karall","sequence":"additional","affiliation":[{"name":"Department of Paediatrics IV, Division of Neonatology, Neuropaediatrics and Inherited Metabolic Disorders Innsbruck Medical University Anichstrasse 35 Innsbruck 6020 Austria"},{"name":"Division of Human Genetics Innsbruck Medical University Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,11,27]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1024048118294"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.2001.3224"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2003.10.014"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199609000-00007"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1177\/000456329603300309"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0320-1"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-197509120-00008"},{"key":"e_1_2_8_9_1","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1542\/peds.27.4.522","article-title":"Idiopathic hyperglycinemia and hyperglycinuria: a new disorder of amino acid metabolism","volume":"27","author":"Childs B","year":"1961","journal-title":"J Pediatr"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI109614"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(94)70364-7"},{"key":"e_1_2_8_12_1","first-page":"2165","volume-title":"The metabolic and molecular bases of inherited disease","author":"Fenton WA","year":"2001"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.11.016"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-5260-7"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(70)91216-X"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-197911000-00005"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-2944(81)90026-0"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1984.tb08078.x"},{"key":"e_1_2_8_19_1","first-page":"225","article-title":"Effects of the metabolites of the branched\u2010chain amino acids and cysteamine on the glycine cleavage system","volume":"6","author":"Hayasaka K","year":"1983","journal-title":"Biochem Int"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005659132147"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9610(02)00808-5"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)86263-4"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-197908000-00004"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02138781"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/PL00014275"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(20)71252-4"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1136\/gut.19.11.1068"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/34.10.2158"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1086\/302919"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1177\/000992280404300908"},{"issue":"1","key":"e_1_2_8_31_1","first-page":"43","article-title":"Dietary therapy in propionic acidemia: recommended versus real protein supply","volume":"27","author":"Scholl\u2010B\u00fcrgi S","year":"2004","journal-title":"J Inherit Metab Dis"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-008-0796-y"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-1631"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0029-1231065"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00726-009-0356-2"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20060221"},{"key":"e_1_2_8_37_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-55878-8_2"},{"key":"e_1_2_8_38_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-55878-8_33"},{"key":"e_1_2_8_39_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI109879"},{"key":"e_1_2_8_40_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2008.00803.x"},{"key":"e_1_2_8_41_1","first-page":"249","volume-title":"Labor und Diagnose","author":"Thomas L","year":"2008"},{"key":"e_1_2_8_42_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0351-7"},{"key":"e_1_2_8_43_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.1998.2783"},{"key":"e_1_2_8_44_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(199910)14:4<275::AID-HUMU1>3.0.CO;2-N"},{"key":"e_1_2_8_45_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80004-2"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-010-9245-9","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1007\/s10545-010-9245-9","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-010-9245-9","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T22:29:02Z","timestamp":1694816942000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-010-9245-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,11,27]]},"references-count":44,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,1]]}},"alternative-id":["10.1007\/s10545-010-9245-9"],"URL":"https:\/\/doi.org\/10.1007\/s10545-010-9245-9","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,11,27]]}}}