In human, mutations in NFU1, BOLA3, IBA57, ISCA2, and ISCA1 genes lead to Multiple Mitochondrial Dysfunctions Syndromes 1 to 5 (MMDS1 to MMDS5) respectively (Selvanathan and Parayil Sankaran, 2022). This evidence concerns the gene ISCA1 and Fatal multiple mitochondrial dysfunction syndrome type 1.