Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy.

Deoxyguanosine kinase (DGUOK) (MIM#601465) deficiency was originally described as the cause of an infantile onset hepatocerebral mitochondrial disease [1]. The classic features of this disorder include significant hepatic failure with nystagmus and hypotonia. Mitochondrial DNA studies reveal significant mitochondrial DNA depletion in the affected tissues. Subsequently it has been shown that the same mutations in this gene may present with isolated acute liver failure without cerebral involvement. In this paper we studied the mitochondrial DNA depletion in cells from a patient presenting with mitochondrial myopathy caused by a novel mutation in DGUOK. Subsequently we developed the method to diagnose this condition using MyoD induced fibroblasts to study the muscle specific phenotype. In addition, supplementation of MyoD induced fibroblasts with dAMP and dGMP resulted in a restoration of mtDNA quantity.