メチルマロン酸尿症 mut 型
メチルマロン酸尿症 cblA 型
メチルマロン酸尿症 cblB 型
メチルマロニル CoA エピメラーゼ欠損症
トランスコバラミンレセプター (TCblR) 欠損による一過性メチルマロン酸尿症
メチルマロン酸尿症およびホモシスチン尿症 [DS:H02221]

二次性高アンモニア血症 [DS:H01400]

Deodato F, Boenzi S, Santorelli FM, Dionisi-Vici C

Methylmalonic and propionic aciduria.

Am J Med Genet C Semin Med Genet 142C:104-12 (2006)
DOI:10.1002/ajmg.c.30090

Ogier de Baulny H, Saudubray JM

Branched-chain organic acidurias.

Semin Neonatol 7:65-74 (2002)
DOI:10.1053/siny.2001.0087

Jansen R, Ledley FD

Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning.

Am J Hum Genet 47:808-14 (1990)

Dobson CM, Wai T, Leclerc D, Wilson A, Wu X, Dore C, Hudson T, Rosenblatt DS, Gravel RA

Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements.

Proc Natl Acad Sci U S A 99:15554-9 (2002)
DOI:10.1073/pnas.242614799

Dobson CM, Wai T, Leclerc D, Kadir H, Narang M, Lerner-Ellis JP, Hudson TJ, Rosenblatt DS, Gravel RA

Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria.

Hum Mol Genet 11:3361-9 (2002)
DOI:10.1093/hmg/11.26.3361

Lerner-Ellis JP, Tirone JC, Pawelek PD, Dore C, Atkinson JL, Watkins D, Morel CF, Fujiwara TM, Moras E, Hosack AR, Dunbar GV, Antonicka H, Forgetta V, Dobson CM, Leclerc D, Gravel RA, Shoubridge EA, Coulton JW, Lepage P, Rommens JM, Morgan K, Rosenblatt DS

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.

Nat Genet 38:93-100 (2006)
DOI:10.1038/ng1683

Gueant JL, Chery C, Oussalah A, Nadaf J, Coelho D, Josse T, Flayac J, Robert A, Koscinski I, Gastin I, Filhine-Tresarrieu P, Pupavac M, Brebner A, Watkins D, Pastinen T, Montpetit A, Hariri F, Tregouet D, Raby BA, Chung WK, Morange PE, Froese DS, Baumgartner MR, Benoist JF, Ficicioglu C, Marchand V, Motorin Y, Bonnemains C, Feillet F, Majewski J, Rosenblatt DS

APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.

Nat Commun 9:67 (2018)
DOI:10.1038/s41467-017-02306-5

Coelho D, Suormala T, Stucki M, Lerner-Ellis JP, Rosenblatt DS, Newbold RF, Baumgartner MR, Fowler B

Gene identification for the cblD defect of vitamin B12 metabolism.

N Engl J Med 358:1454-64 (2008)
DOI:10.1056/NEJMoa072200

Rutsch F, Gailus S, Miousse IR, Suormala T, Sagne C, Toliat MR, Nurnberg G, Wittkampf T, Buers I, Sharifi A, Stucki M, Becker C, Baumgartner M, Robenek H, Marquardt T, Hohne W, Gasnier B, Rosenblatt DS, Fowler B, Nurnberg P

Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.

Nat Genet 41:234-9 (2009)
DOI:10.1038/ng.294

Coelho D, Kim JC, Miousse IR, Fung S, du Moulin M, Buers I, Suormala T, Burda P, Frapolli M, Stucki M, Nurnberg P, Thiele H, Robenek H, Hohne W, Longo N, Pasquali M, Mengel E, Watkins D, Shoubridge EA, Majewski J, Rosenblatt DS, Fowler B, Rutsch F, Baumgartner MR

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.

Nat Genet 44:1152-5 (2012)
DOI:10.1038/ng.2386

Yu HC, Sloan JL, Scharer G, Brebner A, Quintana AM, Achilly NP, Manoli I, Coughlin CR 2nd, Geiger EA, Schneck U, Watkins D, Suormala T, Van Hove JL, Fowler B, Baumgartner MR, Rosenblatt DS, Venditti CP, Shaikh TH

An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.

Am J Hum Genet 93:506-14 (2013)
DOI:10.1016/j.ajhg.2013.07.022

Quadros EV, Lai SC, Nakayama Y, Sequeira JM, Hannibal L, Wang S, Jacobsen DW, Fedosov S, Wright E, Gallagher RC, Anastasio N, Watkins D, Rosenblatt DS

Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12).

Hum Mutat 31:924-9 (2010)
DOI:10.1002/humu.21297

Bikker H, Bakker HD, Abeling NG, Poll-The BT, Kleijer WJ, Rosenblatt DS, Waterham HR, Wanders RJ, Duran M

A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.

Hum Mutat 27:640-3 (2006)
DOI:10.1002/humu.20373