Deoxyguanosine kinase deficiency: a report of four patients


Unal Ö. , ÖZTÜRK HİŞMİ B., KILIÇ M., Gulsen H. H. , COŞKUN T., Sivri S. H. , ...More

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.30, no.6, pp.697-702, 2017 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 30 Issue: 6
  • Publication Date: 2017
  • Doi Number: 10.1515/jpem-2016-0268
  • Journal Name: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.697-702
  • Keywords: elevated tyrosine level, liver failure, mitochondrial diseases, nystagmus, LIVER-TRANSPLANTATION, DEPLETION SYNDROME, MUTATION, NEWBORN, FAILURE

Abstract

Background: Hepatic involvement is a common feature in childhood mitochondrial disorders. Deoxyguanosine kinase (DGUOK) deficiency is one of the mitochondrial DNA depletion syndromes associated with hepatocerebral syndrome. Hepatic disease and neurologic dysfunction occurs within weeks after birth. Low birth weight is one of the common features. This study aims to describe the clinical and laboratory features of four infants carrying four different pathogenic variants in the DGUOK gene.