Abstract
MPV17-related hepatocerebral mitochondrial DNA depletion syndrome (MDS) is a very rare condition, and only a few cases have been reported in East Asian countries. Here, we describe four Korean children affected by hepatocerebral MDS. The DGUOK, POLG1, and MPV17 genes were analyzed, and all patients had MPV17 mutations.
Highlights
Mitochondrial DNA depletion syndrome (MDS) is a clinically heterogeneous group of diseases associated with a reduced copy number of mitochondrial DNA in affected tissues and organs
As more nuclear genetic defects are identified in various kinds of MDS patients, the identification of each genetic defect is becoming more complicated in these cases
Our own experience indicates that these four genes can be screened in infantile patients who exhibit cholestatic hepatopathy, lactic acidosis, developmental delay and motor hypotonia, as well as showing histological evidence of MDS such as an increase in dysmorphic mitochondria
Summary
Mitochondrial DNA depletion syndrome (MDS) is a clinically heterogeneous group of diseases associated with a reduced copy number of mitochondrial DNA in affected tissues and organs. MDS is usually classified as myopathic, encephalomyopathic, hepatocerebral, or neurogastrointestinal [1]. Hepatocerebral MDS is characterized by early-onset hepatopathy and neurological manifestations. Four genes are known to be associated with hepatocerebral MDS: POLG1, DGUOK, C10orf, and MPV17 [1,2]. MPV17-related MDS is a very rare condition, for which only approximately 40 different mutations have been reported (www.hgmd.cf.ac.uk). Four Korean children with hepatocerebral MDS are described, and MPV17 mutations were identified in all these patients
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