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Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)

Synonyms
DGUOK-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form; Mitochondrial DNA depletion syndrome 3; Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency; Mitochondrial DNA-depletion syndrome 3, hepatocerebral
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Deoxyguanosine Kinase Deficiency
The two forms of deoxyguanosine kinase (DGUOK) deficiency are a neonatal multisystem disorder and an isolated hepatic disorder that presents later in infancy or childhood. The majority of affected individuals have the multisystem illness with hepatic disease (jaundice, cholestasis, hepatomegaly, and elevated transaminases) and neurologic manifestations (hypotonia, nystagmus, and developmental delay) evident within weeks of birth. Those with isolated liver disease may also have renal involvement, and some later develop mild hypotonia. Progressive hepatic disease is the most common cause of death in both forms.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Ayman W El-Hattab
Fernando Scaglia
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Available tests

71 tests are in the database for this condition.

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Clinical tests (71 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MTDPS3, NCPH, NCPH1, PEOB4, dGK, DGUOK
    Summary: deoxyguanosine kinase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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