The clinical variations and diagnostic challenges of deoxyguanosine kinase deficiency: a descriptive case series.

Neslihan DoğuluCeyda Tuna KırsaçlıoğluEngin KöseAysel Ünlüsoy AksuZarife KuloğluAydan KansuFatma Tuba Eminoğlu

Published in: Journal of pediatric endocrinology & metabolism : JPEM (2021)

Mitochondrial DNA-depletion syndromes should be kept in mind in cases in which hypotonicity, lactic acidosis, and neonatal cholestasis are observed. DGUOK deficiency may present in different clinics suggesting neonatal hemochromatosis or tyrosinemia type 1.

Keyphrases

mitochondrial dna
copy number
primary care
replacement therapy
cross sectional
tyrosine kinase
protein kinase
gene expression