Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Neonatal liver failure due to deoxyguanosine kinase deficiency.

BMJ case reports - 2 Apr 2012

Nobre Susana, Grazina Manuela, Silva Francisco, Pinto Carla, Gonçalves Isabel, Diogo Luísa

Abstract excerpt

Deoxyguanosine kinase (dGK) deficiency, a rare severe cause of mitochondrial DNA (mtDNA) depletion, has two forms of presentation: hepatocerebral syndrome and isolated hepatic disease. The authors report three cases with neonatal liver failure due to dGK deficiency. Consanguinity was present in all patients. One patient had a brother who died with a probable diagnosis of neonatal haemochromatosis. All patients...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Consanguinity
Share to Diagnosis, Differential
Share to Diagnostic Imaging

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electroencephalography

Share to Fatal Outcome

Share to Liver Failure

Share to Liver Transplantation

Share to Phosphotransferases (Alcohol Group Acceptor)

Source

Open in PubMed Open full text

Identifiers

PMID: 22602837
DOI: 10.1136/bcr.12.2011.5317
PMCID: PMC3339167

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Neonatal liver failure due to deoxyguanosine kinase deficiency.PMID 22602837Read ↗

Deoxyguanosine kinase deficiency: a report of four patients.Semantic proximity Read ↗

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

Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure.Semantic proximity Read ↗

Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis.Semantic proximity Read ↗

Natural history of deoxyguanosine kinase deficiency.Semantic proximity Read ↗

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.Semantic proximity Read ↗

Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement.Semantic proximity Read ↗

Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes.Semantic proximity Read ↗

Hepatic presentations of mitochondrial DNA depletion syndrome in children: A single tertiary liver centre experience.Semantic proximity Read ↗

Case report: Two unexpected cases of DGUOK-related mitochondrial DNA depletion syndrome presenting with hyperinsulinemic hypoglycemia.Semantic proximity Read ↗

[DGUOK-related mitochondrial DNA depletion syndrome: a case report and literature review].Semantic proximity Read ↗

Novel deoxyguanosine kinase gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.