A rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS).
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severe X-linked mitochondrial encephalomyopathy
MONDO:0010437
mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
MONDO:0011421
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
MONDO:0012191
combined oxidative phosphorylation defect type 2
MONDO:0012510
fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
MONDO:0012512
combined oxidative phosphorylation defect type 4
MONDO:0012534