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Letter

Nature Genetics 38, 93–100 (1 January 2006) | doi:10.1038/ng1683

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

Jordan P Lerner-Ellis , Jamie C Tirone , Peter D Pawelek , Carole Dor|[eacute]| , Janet L Atkinson , David Watkins , Chantal F Morel , T Mary Fujiwara , Emily Moras , Angela R Hosack , Gail V Dunbar , Hana Antonicka , Vince Forgetta , C Melissa Dobson , Daniel Leclerc , Roy A Gravel , Eric A Shoubridge , James W Coulton , Pierre Lepage , Johanna M Rommens , Kenneth Morgan & David S Rosenblatt

Methylmalonic aciduria and homocystinuria, cblC type (OMIM 277400), is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases. Affected individuals have developmental, hematological, neurological, metabolic, ophthalmologic and dermatologic clinical findings.