The syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) is a relatively new mitochondrial disease linked to mutations within the gene of the tRNA-maturating enzyme TRNT1, which catalyzes the addition and the maintenance of the conserved nucleotide triplet CCA to the 3’ terminus of all tRNAs which allows for the incorporation of the proper amino acid onto its respective tRNA (4–9). Here, TRNT1 is linked to congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome.