Deoxyguanosine kinase deficiency: a report of four patients

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

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.30, sa.6, ss.697-702, 2017 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 30 Sayı: 6
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1515/jpem-2016-0268
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.697-702
  • Anahtar Kelimeler: elevated tyrosine level, liver failure, mitochondrial diseases, nystagmus, LIVER-TRANSPLANTATION, DEPLETION SYNDROME, MUTATION, NEWBORN, FAILURE
  • Kocaeli Üniversitesi Adresli: Evet

Özet

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.