Longitudinal Study of Mitochondrial Hepatopathies (MITOHEP)
Study on Liver Diseases in Children and Young Adults
Brief description of study.
The purpose of this study is to help researchers learn more about these rare liver diseases that occur in infants, children, and young adults.
Detailed description of study
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 of study
You may be eligible for this study if you meet the following criteria:
- Conditions: Mitochondrial Hepatopathies,Liver Disease,Liver,Hepatic,Mitochondrial,Mitochondria
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Age: 18 years or below
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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
This study investigates rare liver diseases that affect infants, children, and young adults. These diseases may involve problems with the liver's ability to process fats or energy, known as hepatic respiratory chain or fatty acid oxidation defects. The study aims to gather more information about these conditions and their impact on the liver and other parts of the body.
Participants will undergo various study procedures, which may include medical tests and assessments to understand the nature of their liver disease. The study may also involve checking for signs of mitochondrial disease, which is a condition that affects energy production in cells. Participants may have already had a liver transplant or show symptoms like lactic acidosis, hypoglycemia, or abnormal metabolic profiles.
- Who can participate: Children aged 0-18 years with suspected or documented liver-related diseases are eligible. This includes those with mitochondrial disease indicators, such as lactic acidosis or hypoglycemia, and those who have had a liver transplant.
- Study details: Participants will undergo medical tests and assessments to gather information about their liver disease and the impact of mitochondrial conditions on the liver and other body systems.
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