Most of the altered proteins in the mitochondrial disease category (DLD, SLC25A4, NDUFA4, NDUFB5, NDUFB6, NDUFB9, NDUFS1, NDUFA12, UQCRB, CAPN1 and SL25A12) were also found in the group of proteins found to be enriched in energy-related functions (Table 1). The gene discussed is COXFA4; the disease is inborn mitochondrial metabolism disorder.