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Treatment of two mitochondrial disease patients with a combination of febuxostat and inosine that enhances cellular ATP.

Abstract：

:Since mitochondria are energy-generating micro-organisms, most of the disorders in patients with mitochondrial diseases (mt-disease) are considered secondary to defects in ATP synthesis, although some other factors such as reactive oxygen species may be involved. A simultaneous oral administration of febuxostat and inosine was reported to elevate both hypoxanthine and ATP levels in peripheral blood. Based on those results, we attempted co-administration of febuxostat and inosine in two patients with mitochondrial disease: one patient with mitochondrial cardiomyopathy and the other patient with mitochondrial diabetes. In the former case, brain natriuretic peptide (BNP), which is a specific marker for heart failure, was decreased by 31%, and in the latter case, the insulinogenic index increased 3.1 times, suggesting the favorable action of the treatment. Considering that there is no effective treatment available for this disorder, the present therapy may be quite useful for the management of patients with mitochondrial diseases.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Kamatani N,Kushiyama A,Toyo-Oka L,Toyo-Oka T

doi

10.1038/s10038-018-0558-0

subject

Has Abstract

pub_date

2019-04-01 00:00:00

pages

351-353

issue

4

eissn

1434-5161

issn

1435-232X

pii

10.1038/s10038-018-0558-0

journal_volume

64

pub_type

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