Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1

Common Name(s)

Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1

A distinct group of inborn defects of complex V (ATP synthase) is represented by the enzyme deficiency due to nuclear genome mutations characterized by a selective inhibition of ATP synthase biogenesis. Biochemically, the patients show a generalized decrease in the content of ATP synthase complex which is less than 30% of normal. Most cases present with neonatal-onset hypotonia, lactic acidosis, hyperammonemia, hypertrophic cardiomyopathy, and 3-methylglutaconic aciduria. Many patients die within a few months or years (summary by {3:Mayr et al., 2010}). Genetic Heterogeneity of Mitochondrial Complex V Deficiency Other nuclear types of mitochondrial complex V deficiency include MC5DN2 ({614052}), caused by mutation in the TMEM70 gene ({612418}) on chromosome 8q21; MC5DN3 ({614053}), caused by mutation in the ATP5E gene ({606153}) on chromosome 20q13; and MC5DN4 ({615228}), caused by mutation in the ATP5A1 gene ({164360}) on chromosome 18q. Mutations in the mitochondrial-encoded MTATP6 ({516060}) and MTATP8 ({516070}) genes can also cause mitochondrial complex V deficiency (see, e.g., {551500} and {500003}).
 

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Scientific Literature

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