{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T02:53:14Z","timestamp":1761101594238},"reference-count":79,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[1997,3,1]],"date-time":"1997-03-01T00:00:00Z","timestamp":857174400000},"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":[[1997,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The objective of this review is to draw attention to those inherited metabolic traits which are potentially harmful also for the carrier, and to outline preventive measures, at least for obligate heterozygotes, i.e. parents of homozygous children. Concerning carriers of food\u2010dependent abnormalities, early vascular disease in homocystinuria, hyperammonaemic episodes in ornithine transcarbamylase deficiency, presenile cataracts in galactosaemia as well as galactokinase deficiency, spastic paraparesis in X\u2010linked adrenoleukodystrophy, and HELLP syndrome in mothers of babies with long\u2010chain 3\u2010hydroxyacyl\u2010coenzyme A dehydrogenase deficiency have to be mentioned. In the group of food\u2010independent disorders, clinical features in carriers may be paraesthesias and corneal dystrophy in Fabry disease, lens clouding in Lowe syndrome, lung and\/or liver diseases in \u03b11\u2010antitrypsin deficiency, and renal stones in cystinuria type II and III. Finally, two monogenic carrier states are known which in pregnant indi\u2010viduals could possibly afflict the developing fetus, i.e. heterozygosity for galactosaemia and for phenylketonuria. Elevated levels of galactose\u20101\u2010phosphate have been found in red blood cells of infants heterozygous for galactosaemia born to heterozygous mothers. Aspartame in very high doses is reported to increase blood phenylalanine levels in heterozygotes for phenylketonuria, thus being a risk for the fetus of a heterozygous mother. For some of these carrier states preventive measures can be recommended, e.g. restriction of lactose in parents and heterozygous grandparents of children with galactosaemia and galactokinase deficiency as well as transiently in infants heterozygous for galactosaemia, dietary supplementation with monounsaturated fatty acids in symptomatic carriers for X\u2010linked adrenoleukodystrophy, avoidance of smoking and alcohol in heterozygotes for \u03b11\u2010antitrypsin deficiency, avoidance of episodes of dehydration in heterozygotes for cystinuria, and restriction of aspartame in p regnant women.<\/jats:p>","DOI":"10.1023\/a:1005397120726","type":"journal-article","created":{"date-parts":[[2002,12,21]],"date-time":"2002-12-21T21:48:34Z","timestamp":1040507314000},"page":"9-20","source":"Crossref","is-referenced-by-count":13,"title":["Inherited metabolic diseases affecting the carrier"],"prefix":"10.1002","volume":"20","author":[{"given":"W.","family":"Endres","sequence":"first","affiliation":[{"name":"University Children's Hospital  Anichstrasse 35 Innsbruck A\u20106020 Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1997,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199006073222307"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199309093291101"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198002283020902"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(89)80290-2"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01805599"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(72)80117-3"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1753-4887.1979.tb06668.x"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.75.3.1562"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(78)90346-X"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197306072882303"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198509193131201"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.STR.15.6.1012"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0026-0495(98)90014-2"},{"issue":"2","key":"e_1_2_1_15_1","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1007\/BF03335417","article-title":"Lens hexitols and cataract formation during lactation in a woman heterozygote for galactosaemia","volume":"12","author":"Brivet M","year":"1989","journal-title":"J Inher Metab Dis"},{"key":"e_1_2_1_16_1","first-page":"1187","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Brusilow SW","year":"1995"},{"issue":"2","key":"e_1_2_1_17_1","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1007\/BF01804248","article-title":"Cataracts in children with classical galacto\u2010saemia and in their parents","volume":"11","author":"Burke JP","year":"1988","journal-title":"J Inher Metab Dis"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(86)80239-6"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.3109\/00365528509088831"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00329134"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278707"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199104253241701"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198208263070906"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/0026-0495(94)90068-X"},{"key":"e_1_2_1_25_1","first-page":"2741","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Desnick RJ","year":"1995"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799508"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01490242"},{"key":"e_1_2_1_28_1","first-page":"279","article-title":"Effects of smoking and intermediate alpha,\u2010antitrypsin deficiency (Pi MZ) on lung function","volume":"67","author":"Eriksson S","year":"1985","journal-title":"Eur J Respir Dis"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-2944(85)90032-8"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(77)92955-5"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-2944(79)90082-6"},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.13.6.449"},{"key":"e_1_2_1_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320220407"},{"key":"e_1_2_1_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0009-9120(87)80112-1"},{"key":"e_1_2_1_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(74)91417-2"},{"key":"e_1_2_1_36_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199006073222305"},{"key":"e_1_2_1_37_1","first-page":"966","article-title":"Linkage studies in carriers of Lowe oculo\u2010cerebro\u2010renal syndrome","volume":"34","author":"Hittner HM","year":"1982","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_38_1","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1542\/peds.44.3.358","article-title":"Lowe's syndrome: a search for the carrier state","volume":"44","author":"Holmes LB","year":"1969","journal-title":"Pediatrics"},{"key":"e_1_2_1_39_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.11.1857"},{"key":"e_1_2_1_40_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799509"},{"key":"e_1_2_1_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/0026-0495(88)90076-5"},{"key":"e_1_2_1_42_1","first-page":"414","article-title":"Intermediate homocysteinemia: a thermolabile variant of methylenetetrahydrofolate reductase","volume":"43","author":"Kang S\u2010S","year":"1988","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_43_1","first-page":"546","article-title":"Intermediate hyperhomocysteinemia resulting from compound heterozygosity of methylenetetrahydrofolate reductase mutations","volume":"48","author":"Kang S\u2010S","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_44_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291701"},{"key":"e_1_2_1_45_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380010206"},{"key":"e_1_2_1_46_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799516"},{"key":"e_1_2_1_47_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.2.6092.922"},{"key":"e_1_2_1_48_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02126292"},{"key":"e_1_2_1_49_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(89)80294-X"},{"key":"e_1_2_1_50_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(64)92852-1"},{"key":"e_1_2_1_51_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320360111"},{"key":"e_1_2_1_52_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(71)90230-0"},{"key":"e_1_2_1_53_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(75)91143-5"},{"key":"e_1_2_1_54_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799621"},{"key":"e_1_2_1_55_1","first-page":"2325","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Moser HW","year":"1995"},{"key":"e_1_2_1_56_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198509193131210"},{"key":"e_1_2_1_57_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(69)90491-4"},{"key":"e_1_2_1_58_1","first-page":"883","article-title":"A study of cardiovascular risk in heterozygotes for homocystinuria","volume":"33","author":"Mudd SH","year":"1981","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_59_1","first-page":"1","article-title":"The natural history of homocystinuria due to cystathione \/\u2010synthase deficiency","volume":"37","author":"Mudd SH","year":"1985","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_60_1","first-page":"1279","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Mudd SH","year":"1995"},{"key":"e_1_2_1_61_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(88)80682-6"},{"key":"e_1_2_1_62_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1991.tb11856.x"},{"key":"e_1_2_1_63_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(78)90359-8"},{"key":"e_1_2_1_64_1","doi-asserted-by":"crossref","unstructured":"RinaldiE AlbiniL CostagliolaCet al (1984)High frequency of lactose absorbers among adults with idiopathic senile and presenile cataract in a population with a high prevalence of primary adult lactose malabsorption.Lancet 1:355\u2013357..","DOI":"10.1016\/S0140-6736(84)90409-4"},{"key":"e_1_2_1_65_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.36.3.357"},{"key":"e_1_2_1_66_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.39.11.1415"},{"key":"e_1_2_1_67_1","first-page":"599","article-title":"A case of fatal hereditary fructose intolerance. Misleading information on formula composition","volume":"36","author":"Ruecker A. v.","year":"1981","journal-title":"Helv Paediatr Acta"},{"key":"e_1_2_1_68_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1988.tb03444.x"},{"key":"e_1_2_1_69_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.37.9.1558"},{"issue":"2","key":"e_1_2_1_70_1","first-page":"151","article-title":"Sorbitol dehydrogenase deficiency in a family with congenital cataracts","volume":"7","author":"Shin YS","year":"1984","journal-title":"J Inher Metab Dis"},{"key":"e_1_2_1_71_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198510000-00088"},{"key":"e_1_2_1_72_1","doi-asserted-by":"publisher","DOI":"10.1093\/jn\/110.11.2216"},{"key":"e_1_2_1_73_1","doi-asserted-by":"publisher","DOI":"10.1016\/0300-483X(81)90108-6"},{"key":"e_1_2_1_74_1","doi-asserted-by":"publisher","DOI":"10.1016\/0026-0495(89)90184-4"},{"key":"e_1_2_1_75_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00402154"},{"key":"e_1_2_1_76_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00276598"},{"key":"e_1_2_1_77_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(93)92993-4"},{"key":"e_1_2_1_78_1","doi-asserted-by":"publisher","DOI":"10.1016\/0026-0495(83)90045-8"},{"key":"e_1_2_1_79_1","first-page":"373","article-title":"The relation between heterozygosity and IQ in phenylketonuria (Abstract)","volume":"10","author":"Williamson M","year":"1976","journal-title":"Pediatr Res"},{"key":"e_1_2_1_80_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00387.x"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1023%2FA%3A1005397120726","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1023\/A%3A1005397120726","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T02:37:54Z","timestamp":1694745474000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1023\/A%3A1005397120726"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,3]]},"references-count":79,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1997,3]]}},"alternative-id":["10.1023\/A:1005397120726"],"URL":"https:\/\/doi.org\/10.1023\/a:1005397120726","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1997,3]]}}}