Longitudinal Studies of Mitochondrial Hepatopathies (MITOHEP)

MITOHEP is a study to gather information about liver problems in mitochondrial diseases and in fatty oxidation defects.

The purpose of this national study is:

  • To determine the clinical phenotypes and natural history of hepatic RC and FAO disorders
  • To determine the correlation between genotype and phenotype
  • To determine if circulating biomarkers reflect diagnosis and predict liver disease progression and survival with the native liver
  • To determine the clinical outcome of these disorders following liver transplantation
  • To develop a repository of serum, plasma, urine, tissue and DNA specimens that will be used in ancillary studies