Mitochondrial Complex I Deficiency (NDUFA11)

Mitochondrial complex I deficiency (NDUFA11-related) is an autosomal recessive disorder caused by pathogenic variants in the gene NDUFA11. The onset is typically in early infancy. The brain, heart, and skeletal muscles are primarily affected. Neuromuscular problems include exercise intolerance, myalgia, and hypotonia. Neurological symptoms include encephalopathy, seizures, and poor or absent global development. Hypertrophic cardiomyopathy has been described. Lactic acidosis can occur, causing rapid breathing, nausea, vomiting, and may cause infant death. Life expectancy is reduced. No clear genotype-phenotype correlation has been established.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):