{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T02:55:25Z","timestamp":1761101725558},"reference-count":17,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[1991,8,28]],"date-time":"1991-08-28T00:00:00Z","timestamp":683337600000},"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":[[1992,3]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>The Mendelian disorder known as 3\u2010methylgutaconic aciduria (McKusick 250950) gives evidence of allelic and locus heterogeneity. Type 1 has a mild clinical phenotype and confirmed 3\u2010methylgutaconyl\u2010CoA hydratase deficiency; inheritance is autosomal recessive. Other forms have major clinical manifestations and subdivide into X\u2010linked (type 2), a form in Iraqi Jews with optic atrophy (so\u2010called type 3); and untyped (putative autosomal recessive) forms without identified enzyme defects. In the latter, 3\u2010methylglutaconic aciduria may simply be a marker for another metabolic disorder.<\/jats:p><jats:p>We describe a male proband with 3\u2010methylglutaconic aciduria designated here as \u2018type 4\u2019 (autosomal recessive, with severe psychomotor phenotype and cerebellar dysgenesis). He is the offspring of Italian consanguineous parents. Born with congenital malformations, he has been followed for 18 years, showing profound developmental delay and cerebellar dysgenesis. Measures of hydratase activity in cultured fibroblasts from the proband and 11 additional patients (two with type 1 disease, 9 with either type 2 or an unspecified form) revealed deficient enzyme activity in type 1 cases and normal activity in the proband and the other 11 cases. Two of the untyped cases probably have 3\u2010methylglutaconic aciduria of the type described here.<\/jats:p><jats:p>Prenatal diagnosis in the form described here may be feasible by analysis of amniotic fluid metabolites in pregnancies at risk if the mother does not entirely remove elevated concentrations. A female sibling of the proband had normal metabolite values in amniotic fluid. Postnatal follow\u2010up confirmed absence of the disease. We give the normal values for amniotic fluid and results on these additional fetuses at risk (none affected).<\/jats:p>","DOI":"10.1007\/bf01799632","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T17:23:37Z","timestamp":1119374617000},"page":"204-212","source":"Crossref","is-referenced-by-count":29,"title":["3\u2010Methylglutaconic aciduria: A marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a \u2018new\u2019 type (\u2018type 4\u2019)"],"prefix":"10.1002","volume":"15","author":[{"given":"D.","family":"Chitayat","sequence":"first","affiliation":[{"name":"A\u2010707, De Belle Laboratory for Biochemical Genetics, Division of Medical Genetics, Department of Pediatrics The Montreal Children's Hospital  2300 Tupper Street Montreal Quebec H3H 1P3 Canada"},{"name":"Genetics Dept. Hospital for Sick Children  555 University Avenue Toronto Ontario M5G 1X8 Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Chemke","sequence":"additional","affiliation":[{"name":"A\u2010707, De Belle Laboratory for Biochemical Genetics, Division of Medical Genetics, Department of Pediatrics The Montreal Children's Hospital  2300 Tupper Street Montreal Quebec H3H 1P3 Canada"},{"name":"Department of Medical Genetics Kaplan Hospital  Rehovot Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K. M.","family":"Gibson","sequence":"additional","affiliation":[{"name":"Kimberly H. Courtwright and Joseph W. Summers Metabolic Disease Center and the Baylor Research Institute Baylor University Medical Center  Dallas Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O. A.","family":"Mamer","sequence":"additional","affiliation":[{"name":"MRC Gas Chromatography\u2010Mass Spectrometry Unit McGill University  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. B.","family":"Kronick","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Western Ontario  London Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. J.","family":"McGill","sequence":"additional","affiliation":[{"name":"A\u2010707, De Belle Laboratory for Biochemical Genetics, Division of Medical Genetics, Department of Pediatrics The Montreal Children's Hospital  2300 Tupper Street Montreal Quebec H3H 1P3 Canada"},{"name":"Royal Children's Hospital  Herston 4029 Brisbane Queensland Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Rosenblatt","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics The Montreal Children's Hospital  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Sweetman","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Children's Hospital  Los Angeles California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C. R.","family":"Scriver","sequence":"additional","affiliation":[{"name":"A\u2010707, De Belle Laboratory for Biochemical Genetics, Division of Medical Genetics, Department of Pediatrics The Montreal Children's Hospital  2300 Tupper Street Montreal Quebec H3H 1P3 Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1991,8,28]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799219"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.39.4.595"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(82)80698-7"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441821"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)82199-7"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441354"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441599"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00443213"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970100410"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)80289-6"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI112415"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(89)90256-8"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(80)90445-3"},{"key":"e_1_2_1_15_1","first-page":"371A","article-title":"\u03b2\u2010Methylglutaconic aciduria: a new disorder of leucine metabolism","volume":"10","author":"Robinson BH","year":"1976","journal-title":"Pediatr Res"},{"key":"e_1_2_1_16_1","first-page":"A165","article-title":"Siblings with 3\u2010methylglutaconic aciduria presenting at birth","volume":"47","author":"Schneider MC","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_17_1","first-page":"791","volume-title":"The Metabolic Basis of Inherited Disease","author":"Sweetman L","year":"1989"},{"key":"e_1_2_1_18_1","first-page":"143","volume-title":"Techniques in Diagnostic Human Biochemical Genetics: A Laboratory Manual","author":"Sweetman L","year":"1991"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01799632","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01799632","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T16:03:08Z","timestamp":1694880188000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF01799632"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,8,28]]},"references-count":17,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1992,3]]}},"alternative-id":["10.1007\/BF01799632"],"URL":"https:\/\/doi.org\/10.1007\/bf01799632","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,8,28]]}}}