Background Neonatal mitochondrial encephalocardiomyopathy (OMIM, 614052) is due to a mutation of transmembrane protein 70 gene (TMEM70). TMEM70 encodes a mitochondrial membrane protein that plays a role in the biogenesis of mitochondrial ATP synthase.
Materials and methods The authors report a boy aged 1 year and 9 months who presented immediately after birth with signs of encephalopathy associated with lactic acidosis, severe hypotonia, hyperammonemia, and 3-methylglutaconic aciduria. The infant was also found to have hypertrophic cardiomyopathy, atrial septal defect, pulmonary hypertension, hypospadias, moderate psychomotor developmental delay. It is the fifth child in the family, born prematurely, low birth weight (1900 g); consanguineous family of Roma (Gypsy) ethnic origin.
Results Genetic testing revealed a homozygous mutation (c.317-2A>G) in the TMEM70 gene. This mutation is prevalent, particularly in the Roma population. The inheritance is autosomal recessive. The prevalence of the syndrome is unknown.
Conclusion To date fewer than 100 cases have been reported in the literature (Orphanet). This is the only case reported in Romania.
- mitochondrial encephalocardiomyopathy
- ATP synthase
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