Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
MONDO:0009636Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the DGUOK gene.
Also known as: DGUOK mitochondrial DNA depletion syndrome, mitochondrial DNA depletion syndrome 3, mitochondrial DNA depletion syndrome 3 (hepatocerebral type), mitochondrial DNA depletion syndrome caused by mutation in DGUOK, mitochondrial DNA depletion syndrome type 3, MTDPS3, mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
41 clinical trials for this condition and its sub-types.
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Disease
(618)
Metabolic disease
(215)
Hereditary disease
(172)
Inborn mitochondrial metabolism disorder
(57)
Inborn errors of metabolism
(42)
Mitochondrial disease
(39)
Human disease
(14)
Developmental defect during embryogenesis
(7)
Mitochondrial DNA depletion syndrome
(3)
Mitochondrial oxidative phosphorylation disorder
(3)