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Article

Deoxyguanosine kinase deficiency: a report of four patients.

Journal of pediatric endocrinology & metabolism : JPEM - 24 May 2017

Ünal Özlem, Hişmi Burcu, Kılıç Mustafa, Gülşen Hayriye Hızarcıoğlu, Coşkun Turgay, Sivri Serap Hatice, Dursun Ali, Yüce Aysel, Tokatlı Ayşegül

Abstract excerpt

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...

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Source

Identifiers

PMID: 28493820
DOI: 10.1515/jpem-2016-0268

Genes

DGUOK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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