Mitochondrial dna depletion syndrome 6 (hepatocerebral type) - CISMeF
Mitochondrial dna depletion syndrome 6 (hepatocerebral type)OMIM Phenotype
Preferred Label : Mitochondrial dna depletion syndrome 6 (hepatocerebral type);
Symbol : MTDPS6;
CISMeF acronym : MTDPS6; NN; NNH;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Navajo neurohepatopathy; Navajo neuropathy; NNH; NN;
Included titles and symbols : Navajo familial neurogenic arthropathy;
Description : Mitochondrial DNA depletion syndrome-6 is an autosomal recessive disorder characterized
by infantile onset of progressive liver failure, often leading to death in the first
year of life. Those that survive develop progressive neurologic involvement, including
ataxia, hypotonia, dystonia, and psychomotor regression (Spinazzola et al., 2008).
For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes,
see MTDPS1 (603041).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the mitochondrial inner membrane protein MPV17 gene (MPV17,
137960.0001);
Laboratory abnormalities : Elevated liver enzymes; Increased total and conjugated bilirubin;