{"created":"2022-02-02T02:08:20.551553+00:00","id":2012403,"links":{},"metadata":{"_buckets":{"deposit":"ffea4de9-7492-4943-a22a-102e69d7f779"},"_deposit":{"id":"2012403","owners":[1],"pid":{"revision_id":0,"type":"depid","value":"2012403"},"status":"published"},"_oai":{"id":"oai:u-ryukyu.repo.nii.ac.jp:02012403","sets":["1642838163960:1642838338003","1642838403551:1642838407795"]},"author_link":[],"item_1617186331708":{"attribute_name":"Title","attribute_value_mlt":[{"subitem_1551255647225":"Isovaleric acidemia : Therapeutic response to supplementation with glycine, l-carnitine, or both in combination and a 10-year follow-up case study","subitem_1551255648112":"en"}]},"item_1617186419668":{"attribute_name":"Creator","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Chinen, Yasutsugu","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Nakamura, Sadao","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Tamashiro, Kunihito","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Sakamoto, Osamu","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Tashiro, Kyoko","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Inokuchi, Takahiro","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Nakanishi, Koichi","creatorNameLang":"en"}]}]},"item_1617186476635":{"attribute_name":"Access Rights","attribute_value_mlt":[{"subitem_1522299639480":"open access","subitem_1600958577026":"http://purl.org/coar/access_right/c_abf2"}]},"item_1617186499011":{"attribute_name":"Rights","attribute_value_mlt":[{"subitem_1522650717957":"en","subitem_1522651041219":"Creative Commons Attribution-NonCommercial-NoDerivatives 4.0"},{"subitem_1522650717957":"en","subitem_1522650727486":"https://creativecommons.org/licenses/by-nc-nd/4.0/","subitem_1522651041219":"https://creativecommons.org/licenses/by-nc-nd/4.0/"}]},"item_1617186609386":{"attribute_name":"Subject","attribute_value_mlt":[{"subitem_1522299896455":"en","subitem_1522300014469":"Other","subitem_1523261968819":"Isovaleric acidemia"},{"subitem_1522299896455":"en","subitem_1522300014469":"Other","subitem_1523261968819":"Glycine"},{"subitem_1522299896455":"en","subitem_1522300014469":"Other","subitem_1523261968819":"L-carnitine"},{"subitem_1522299896455":"en","subitem_1522300014469":"Other","subitem_1523261968819":"Isovalerylcarnitine"},{"subitem_1522299896455":"en","subitem_1522300014469":"Other","subitem_1523261968819":"Isovalerylglycine"}]},"item_1617186626617":{"attribute_name":"Description","attribute_value_mlt":[{"subitem_description":"Isovaleric acidemia (IVA) is an organic acid disease caused by a deficiency of isovaleryl-CoA dehydrogenase. Deficiency of this enzyme leads to accumulation of organic acids, such as isovalerylcarnitine and isovalerylglycine. The proposed IVA treatments include leucine restriction and l-carnitine and/or glycine supplementation, which convert isovaleric acid into non-toxic isovalerylcarnitine and isovalerylglycine, respectively. We examined the therapeutic response using the leucine load test and performed a 10-year follow-up in the patient. Methods:We evaluated the patient with IVA beginning at 5 years of age, when he presented with a mild to intermediate metabolic phenotype. Ammonia, free carnitine, isovalerylcarnitine, and isovalerylglycine were analyzed in the urine and blood after a meal consisting of 1600 mg leucine with glycine alone (250 mg/kg/day), l-carnitine alone (100 mg/kg/day), or both glycine and l-carnitine for four days each. Results:(Leucine load test) Three hours after the meal, serum ammonia levels increased most dramatically with glycine treatment alone, then with both in combination, and least with l-carnitine alone. Urinary isovalerylglycine levels increased 2-fold more with glycine supplementation than those following supplementation with both agents or with l-carnitine alone. Treatment with both agents resulted in a gradual increase in urinary acylcarnitine levels during the 6-h period following the leucine load, reaching concentrations comparable to those observed with l-carnitine alone. (Clinical course) After initiation of both glycine (200 mg/kg/day) and l-carnitine (100 mg/kg/day) supplementation at 5 years of age, doses were gradually reduced to 111.7 mg/kg/day and 55.8 mg/kg/day, respectively, at 15 years of age. His mind and body had developed without any sequelae. Discussion:We concluded that l-carnitine conjugated isovaleric acid earlier than glycine. Additionally, during the 10-year follow-up period, the patient displayed no clinical deterioration.","subitem_description_type":"Other"},{"subitem_description":"論文","subitem_description_type":"Other"}]},"item_1617186643794":{"attribute_name":"Publisher","attribute_value_mlt":[{"subitem_1522300295150":"en","subitem_1522300316516":"Elsevier"}]},"item_1617186702042":{"attribute_name":"Language","attribute_value_mlt":[{"subitem_1551255818386":"eng"}]},"item_1617186783814":{"attribute_name":"Identifier","attribute_value_mlt":[{"subitem_identifier_type":"HDL","subitem_identifier_uri":"http://hdl.handle.net/20.500.12000/45971"}]},"item_1617186920753":{"attribute_name":"Source Identifier","attribute_value_mlt":[{"subitem_1522646500366":"ISSN","subitem_1522646572813":"2214-4269"}]},"item_1617186941041":{"attribute_name":"Source Title","attribute_value_mlt":[{"subitem_1522650068558":"en","subitem_1522650091861":"Molecular Genetics and Metabolism Reports"}]},"item_1617187056579":{"attribute_name":"Bibliographic Information","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2017-06","bibliographicIssueDateType":"Issued"},"bibliographicPageEnd":"5","bibliographicPageStart":"2","bibliographicVolumeNumber":"11"}]},"item_1617258105262":{"attribute_name":"Resource Type","attribute_value_mlt":[{"resourcetype":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_1617265215918":{"attribute_name":"Version Type","attribute_value_mlt":[{"subitem_1522305645492":"VoR","subitem_1600292170262":"http://purl.org/coar/version/c_970fb48d4fbd8a85"}]},"item_1617353299429":{"attribute_name":"Relation","attribute_value_mlt":[{"subitem_1522306287251":{"subitem_1522306382014":"DOI","subitem_1522306436033":"https://doi.org/10.1016/j.ymgmr.2017.03.002"}},{"subitem_1522306287251":{"subitem_1522306382014":"DOI","subitem_1522306436033":"https://doi.org/10.1016/j.ymgmr.2017.03.002"}}]},"item_1617605131499":{"attribute_name":"File","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_access","filename":"1-s2.0-S2214426916300799-main.pdf","mimetype":"application/pdf","url":{"objectType":"fulltext","url":"https://u-ryukyu.repo.nii.ac.jp/record/2012403/files/1-s2.0-S2214426916300799-main.pdf"},"version_id":"417a7921-642f-4b2a-a531-04f39c3f6cac"}]},"item_title":"Isovaleric acidemia : Therapeutic response to supplementation with glycine, l-carnitine, or both in combination and a 10-year follow-up case study","item_type_id":"15","owner":"1","path":["1642838338003","1642838407795"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2020-06-02"},"publish_date":"2020-06-02","publish_status":"0","recid":"2012403","relation_version_is_last":true,"title":["Isovaleric acidemia : Therapeutic response to supplementation with glycine, l-carnitine, or both in combination and a 10-year follow-up case study"],"weko_creator_id":"1","weko_shared_id":-1},"updated":"2023-08-03T05:27:09.043509+00:00"}