Longitudinal Study of Mitochondrial Hepatopathies (MITOHEP)
Jean Molleston, MD
Primary Investigator
Overview
The purpose of this study is to help researchers learn more about these rare liver diseases that occur in infants, children, and young adults.
Description
The purpose of this study is to help researchers learn more about these rare liver diseases that occur in infants, children, and young adults.
Eligibility
You may be eligible for this study if you meet the following criteria:
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Conditions:
Liver Disease
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Age: - 18 Years
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Gender: All
Inclusion Criteria
Children ages 0-18yo with suspected or documented hepatic respiratory chain or fatty acid oxidation defects
Children with suspected mitochondrial disease and evidence of acute or chronic liver disease and evidence of at least one of the following: extrahepatic disease, lactic acidosis, hypoglycemia, abnormal acylcarnitine profile, or documented biochemical enzymatic or genetic diagnosis.
Children with suspected mitochondrial disease who have undergone liver transplantation and who have evidence of at least one of the following: extrahepatic disease, lactic acidosis, hypoglycemia, abnormal acylcarnitine profile, or documented biochemical enyzmatic or genetic diagnosis.
Children with suspected mitochondrial liver disease who do not yet meet above criteria.
Exclusion Criteria
Inability to comply with the longitudinal follow-up
Failure of family to sign consent/assent or HIPAA authorization form
Known medium Chain Acyl CoA Dehydrogenase Deficiency
Other known causes of liver disease
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