Neslihan Doğulu, Ceyda Tuna Kırsaçlıoğlu, Engin Köse, Aysel Ünlüsoy Aksu, Zarife Kuloğlu, Aydan Kansu, Fatma Tuba Eminoğlu
OBJECTIVES: Deoxyguanosine kinase (DGUOK) deficiency is one of the leading causes of the mitochondrial DNA-depletion syndromes (MDDS) associated with hepatocerebral involvement. Herein, we present four cases of DGUOK deficiency to emphasize the clinical variability of disease and the challenges in the diagnosis of DGUOK deficiency. CASE PRESENTATION: Hepatomegaly, hyperlactatemia, elevated alpha fetoprotein (AFP), alanine, and transaminase levels were detected in all patients, and cholestasis, coagulopathy, and hypotonia were common findings...
October 26, 2021: Journal of Pediatric Endocrinology & Metabolism: JPEM