Allogeneic haematopoietic stem cell transplantation for mitochondrial XXXX .

@entity1 @entity409 @entity344 @entity1015 @entity17903 @entity1897 @entity74 @entity1014 @entity204
Haematopoietic stem cell transplantation has been proposed as treatment for mitochondrial @entity17903 , a rare fatal @entity74 due to @entity1015 mutations that result in @entity1014 phosphorylase deficiency. We conducted a retrospective analysis of all known @entity1 suffering from mitochondrial @entity17903 who underwent allogeneic haematopoietic stem cell transplantation between 2005 and 2011. Twenty-four @entity1 , 11 males and 13 females, median age 25 years (range 10-41 years) treated with haematopoietic stem cell transplantation from related (n = 9) or unrelated donors (n = 15) in 15 institutions worldwide were analysed for outcome and its associated factors. Overall, 9 of 24 @entity1 (37.5%) were alive at last follow-up with a median follow-up of these surviving @entity1 of 1430 days. @entity204 were attributed to transplant in nine (including two after a second transplant due to graft failure), and to mitochondrial @entity17903 in six @entity1 . @entity1014 phosphorylase activity rose from undetectable to normal levels (median 697 nmol/h/mg protein, range 262-1285) in all survivors. Seven @entity1 (29%) who were engrafted and living more than 2 years after transplantation, showed improvement of body mass index, @entity344 , and @entity1897 . Univariate statistical analysis demonstrated that survival was associated with two defined pre-transplant characteristics: human leukocyte antigen match (10/10 versus <10/10) and disease characteristics ( @entity409 , history of @entity344 or both). Allogeneic haematopoietic stem cell transplantation can restore @entity1014 phosphorylase enzyme function in @entity1 with mitochondrial @entity17903 and improve clinical manifestations of mitochondrial @entity17903 in the long term. Allogeneic haematopoietic stem cell transplantation should be considered for selected @entity1 with an optimal donor.
