Mitochondrial Complex Iv Deficiency, Nuclear Type 5 (MC4DN5)

Mitochondrial Complex Iv Deficiency, Nuclear Type 5, also known as congenital lactic acidosis, saguenay-lac-saint-jean type, is related to mitochondrial complex v deficiency, nuclear type 5 and mitochondrial disease, and has symptoms including ataxia, tremor and apnea. An important gene associated with Mitochondrial Complex Iv Deficiency, Nuclear Type 5 is LRPPRC (Leucine Rich Pentatricopeptide Repeat Containing), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include eye and liver, and related phenotypes are failure to thrive and hypotonia