{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T23:59:09Z","timestamp":1791331149271,"version":"4.3.1"},"reference-count":30,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2002,7,25]],"date-time":"2002-07-25T00:00:00Z","timestamp":1027555200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Two siblings, a boy age 12 and his sister age 4 years, presented with proteinuria and hematuria, hypertension, and chronic hemolytic anemia. At age 13 years, the boy developed an episode of severe hypertensive encephalopathy and transient renal failure. Both children are attending normal school, have no neurologic symptoms, and only minimal pigmentary retinal abnormalities. Renal biopsy showed a chronic thrombotic microangiopathic nephropathy. Both patients had hyperhomocysteinemia and mild methylmalonic aciduria. Fibroblasts showed decreased cobalamin uptake, reduced methyl\u2010 and adenosyl\u2010cobalamin formation, and deficient incorporation of formate and propionate, compatible with the Cbl\u2010C complementation group, but milder than that found in cells from most patients. Both patients and their father carry a balanced reciprocal translocation. Parenteral hydroxycobalamin treatment reduced the homocysteine levels, and methylmalonic acid disappeared. Increasing the dosage of hydroxycobalamin from 1 to 2.5, then 5 mg daily together with betaine, further reduced homocysteine levels (boy from 118 to 23 \u03bcM and girl from 59 to 14 \u03bcM). With this treatment, hemolysis has stopped, hematuria has disappeared, proteinuria has almost normalized, and creatinine clearance has been stable. Investigations for chronic thrombotic microangiopathy should include testing for this unusual but treatable disorder, regardless of age of presentation. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10499","type":"journal-article","created":{"date-parts":[[2002,10,6]],"date-time":"2002-10-06T11:56:23Z","timestamp":1033905383000},"page":"195-201","source":"Crossref","is-referenced-by-count":82,"title":["Cobalamin disorder Cbl\u2010C presenting with late\u2010onset thrombotic microangiopathy"],"prefix":"10.1002","volume":"111","author":[{"given":"Johan L.K.","family":"Van Hove","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita Van","family":"Damme\u2010Lombaerts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Gr\u00fcnewald","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heidi","family":"Peters","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Boudewijn Van","family":"Damme","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Pierre","family":"Fryns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jozef","family":"Arnout","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ron","family":"Wevers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E. Regula","family":"Baumgartner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian","family":"Fowler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,7,25]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(98)70496-2"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.3109\/00365519609088586"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(88)80114-8"},{"key":"e_1_2_7_5_1","first-page":"465","article-title":"Congenital defect in intracellular cobalamin metabolism resulting in homocystinuria and methylmalonic aciduria","volume":"34","author":"Baumgartner ER","year":"1979","journal-title":"Helv Paediatr Acta"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ki.1997.298"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320360208"},{"key":"e_1_2_7_8_1","first-page":"749","article-title":"Syndrome h\u00e9molytique et ur\u00e9mique n\u00e9onatal, acidurie m\u00e9thylmalonique et homocystinurie par d\u00e9ficit intracellulaire de la vitamine B12","volume":"50","author":"Chenel C","year":"1993","journal-title":"Arch Fran\u00e7 P\u00e9diatr"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/ajcn\/69.5.968"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005517727451"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/PL00014311"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199701000-00023"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199811263392202"},{"key":"e_1_2_7_14_1","doi-asserted-by":"crossref","first-page":"22831","DOI":"10.1074\/jbc.271.37.22831","article-title":"Purification, kinetic properties, and cDNA cloning of mammalian betaine\u2010homocysteine methyltransferase","volume":"1996","author":"Garrow TA","year":"1996","journal-title":"J Biol Chem"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)81967-5"},{"key":"e_1_2_7_16_1","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1093\/clinchem\/40.6.873","article-title":"Rapid HPLC determination of total homocysteine and other thiols in serum and plasma: sex differences and correlation with cobalamin and folate concentrations","volume":"40","author":"Jacobsen DW","year":"1994","journal-title":"Clin Chem"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050744"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310051190"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(86)80882-4"},{"key":"e_1_2_7_20_1","first-page":"2007","volume-title":"The metabolic and molecular bases of inherited disease","author":"Mudd SH","year":"2001"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.76.6.518"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02009662"},{"key":"e_1_2_7_23_1","first-page":"247","volume-title":"Treatment of metabolic diseases","author":"Rosenblatt DS","year":"1996"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/0046-8177(92)90127-O"},{"key":"e_1_2_7_25_1","first-page":"145","article-title":"Pharmacokinetics of betaine in healthy subjects and children with methylenetetrahydrofolate deficiency","volume":"22","author":"Schwahn B","year":"1999","journal-title":"J Inher Metabol Dis"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005694712583"},{"key":"e_1_2_7_27_1","doi-asserted-by":"crossref","first-page":"14944","DOI":"10.1016\/S0021-9258(18)33375-1","article-title":"Human hepatic methionine biosynthesis. Purification and characterization of betaine: homocysteine S\u2010methyltransferasse","volume":"257","author":"Skiba WE","year":"1982","journal-title":"J Biol Chem"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199811263392203"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0950-3536(98)80063-2"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/40.7.1245"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00295291"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.10499","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.10499","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T13:15:26Z","timestamp":1697634926000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10499"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,7,25]]},"references-count":30,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2002,8]]}},"alternative-id":["10.1002\/ajmg.10499"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.10499","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,7,25]]}}}