Vladimír Bzdúch, Katarína Brennerová, Darina Behúlová, Martina Skokňová, Martin Záhorec, Róbert Petrovič
Background: TMEM70 deficiency is a novel nuclear defect of mitochondrial ATP synthase with high incidence in Roma
Case report: The boy was born abroad to healthy parents of Roma origin coming from Slovakia with birth weight of
2 250 g. His early postnatal period was complicated by hypotonia, high temperature and hyperammonemia. Echocardiography
revealed hypertrophic cardiomyopathy. He developed failure to thrive with repeated hyperammonemic
crisis mostly after infection in early childhood. Suspicion of urea cycle disorder was suggested. Diagnosis was finally
established after arrival to Slovakia at the age of 4 years. Molecular genetic analysis proved mutation c.317-2A>G
in the mitochondrial TMEM70 gene.
Conclusion: Aim of this case report was calling attention to possibly high incidence of TMEM70 deficiency in Slovakia.