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Article

Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis.

Molecular genetics and metabolism - 1 Jul 2011

Hanchard Neil A, Shchelochkov Oleg A, Roy Angshumoy, Wiszniewska Joanna, Wang Jing, Popek Edwina J, Karpen Saul, Wong Lee-Jun C, Scaglia Fernando

Abstract excerpt

Mutations in DGUOK result in mitochondrial DNA (mtDNA) depletion and may present as neonatal liver failure. Neonatal hemochromatosis (NH(1)) is a liver disorder of uncertain and varied etiology characterized by hepatic and non-reticuloendothelial siderosis. To date, deoxyguanosine kinase (dGK(2)) deficiency has not been formally recognized in cases of NH. We report an African American female neonate with clinical...

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Source

Identifiers

PMID: 21478040
DOI: 10.1016/j.ymgme.2011.03.006

Genes

DGUOK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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