Mitochondrial Complex I Deficiency (NDUFAF5-Related) (NDUFAF5)
Mitochondrial complex I deficiency (NDUFAF5-related) is a very rare autosomal recessive disorder caused by pathogenic variants in the gene NDUFAF5. To date, this disease has mainly been reported in North African or Ashkenazi Jewish patients. Loss of function of the protein encoded by NDUFAF5 results in impaired ability of the mitochondria to produce energy for the cell. The disease progression is variable; some patients display an onset of disease immediately following birth, with death in the neonatal period; others have exhibited delayed onset and survival into childhood or adulthood. Hypotonia and feeding problems are common; seizures may be present. Patients surviving to adulthood have intellectual disability, spasticity, and difficulty swallowing or controlling movements. At the moment, too few patients have been reported to determine a genotype-phenotype correlation.
For information about carrier frequency and residual risk, please see the Expanded Carrier Screen brochure.