Article
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.
Nature genetics - 1 Oct 2012
Coelho David, Kim Jaeseung C, Miousse Isabelle R, Fung Stephen, du Moulin Marcel, Buers Insa, Suormala Terttu, Burda Patricie, Frapolli Michele, Stucki Martin, Nürnberg Peter, Thiele Holger, Robenek Horst, Höhne Wolfgang, Longo Nicola, Pasquali Marzia, Mengel Eugen, Watkins David, Shoubridge Eric A, Majewski Jacek, Rosenblatt David S, Fowler Brian, Rutsch Frank, Baumgartner Matthias R
Abstract excerpt
Inherited disorders of vitamin B12 (cobalamin) have provided important clues to how this vitamin, which is essential for hematological and neurological function, is transported and metabolized. We describe a new disease that results in failure to release vitamin B12 from lysosomes, which mimics the cblF defect caused by LMBRD1 mutations. Using microcell-mediated chromosome transfer and exome sequencing, we...
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