{"_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": ["1642838338003", "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", "download_preview_message": "", "file_order": 0, "filename": "1-s2.0-S2214426916300799-main.pdf", "future_date_message": "", "is_thumbnail": false, "mimetype": "", "size": 0, "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"], "permalink_uri": "http://hdl.handle.net/20.500.12000/45971", "pubdate": {"attribute_name": "PubDate", "attribute_value": "2020-06-02"}, "publish_date": "2020-06-02", "publish_status": "0", "recid": "2012403", "relation": {}, "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_shared_id": -1}