POLR3A and leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism: Here, we present a case report of a compound heterozygous for c.1771-6C>G and c.3721G>A mutations in POLR3A. The patient presented clinical features associated with HLD7 and NPS, but also metabolic acidosis, leukocytosis, lipid and lactate peak.