Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They ...
Comprehensive, easy-to-understand information about this condition
How we create this content →Documentation is limited due to the rarity of inborn mitochondrial metabolism disorders, which affects fewer than a specific number of individuals worldwide. This rarity leads to challenges in conducting systematic clinical studies and characterizing the diverse clinical features associated with these conditions. Additionally, the genetic basis for many mitochondrial disorders has only recently been identified, and ongoing research is needed to better understand their clinical implications.
To navigate your care effectively, it is advisable to seek specialists such as a geneticist or a metabolic disease specialist with experience in mitochondrial disorders. While no specific patient organizations are identified for this condition, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Consider participating in clinical trials or registries to contribute to ongoing research and gain access to potential treatments. Genetic counseling may also be beneficial, especially given the involvement of multiple genes.
Currently, there are three orphan drugs designated for inborn mitochondrial metabolism disorders, including Methyl 4-{[2-(acetamino)ethyl]sulfanyl}-4-oxobutanoate and vatiquinone, which are in development. Additionally, there are 76 active clinical trials exploring various aspects of these disorders. For more information on ongoing trials, you can visit the ClinicalTrials.gov search page: https://clinicaltrials.gov/search?cond=inborn%20mitochondrial%20metabolism%20disorder.
Actionable guidance for navigating care for inborn mitochondrial metabolism disorder
To navigate your care effectively, it is advisable to seek specialists such as a geneticist or a metabolic disease specialist with experience in mitochondrial disorders. While no specific patient organizations are identified for this condition, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Consider participating in clinical trials or registries to contribute to ongoing research and gain access to potential treatments. Genetic counseling may also be beneficial, especially given the involvement of multiple genes.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Documentation is limited due to the rarity of inborn mitochondrial metabolism disorders, which affects fewer than a specific number of individuals worldwide. This rarity leads to challenges in conducting systematic clinical studies and characterizing the diverse clinical features associated with these conditions. Additionally, the genetic basis for many mitochondrial disorders has only recently been identified, and ongoing research is needed to better understand their clinical implications.
To navigate your care effectively, it is advisable to seek specialists such as a geneticist or a metabolic disease specialist with experience in mitochondrial disorders. While no specific patient organizations are identified for this condition, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Consider participating in clinical trials or registries to contribute to ongoing research and gain access to potential treatments. Genetic counseling may also be beneficial, especially given the involvement of multiple genes.
Currently, there are three orphan drugs designated for inborn mitochondrial metabolism disorders, including Methyl 4-{[2-(acetamino)ethyl]sulfanyl}-4-oxobutanoate and vatiquinone, which are in development. Additionally, there are 76 active clinical trials exploring various aspects of these disorders. For more information on ongoing trials, you can visit the ClinicalTrials.gov search page: https://clinicaltrials.gov/search?cond=inborn%20mitochondrial%20metabolism%20disorder.
Actionable guidance for navigating care for inborn mitochondrial metabolism disorder
To navigate your care effectively, it is advisable to seek specialists such as a geneticist or a metabolic disease specialist with experience in mitochondrial disorders. While no specific patient organizations are identified for this condition, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Consider participating in clinical trials or registries to contribute to ongoing research and gain access to potential treatments. Genetic counseling may also be beneficial, especially given the involvement of multiple genes.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Documentation is limited due to the rarity of inborn mitochondrial metabolism disorders, which affects fewer than a specific number of individuals worldwide. This rarity leads to challenges in conducting systematic clinical studies and characterizing the diverse clinical features associated with these conditions. Additionally, the genetic basis for many mitochondrial disorders has only recently been identified, and ongoing research is needed to better understand their clinical implications.
To navigate your care effectively, it is advisable to seek specialists such as a geneticist or a metabolic disease specialist with experience in mitochondrial disorders. While no specific patient organizations are identified for this condition, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Consider participating in clinical trials or registries to contribute to ongoing research and gain access to potential treatments. Genetic counseling may also be beneficial, especially given the involvement of multiple genes.
Currently, there are three orphan drugs designated for inborn mitochondrial metabolism disorders, including Methyl 4-{[2-(acetamino)ethyl]sulfanyl}-4-oxobutanoate and vatiquinone, which are in development. Additionally, there are 76 active clinical trials exploring various aspects of these disorders. For more information on ongoing trials, you can visit the ClinicalTrials.gov search page: https://clinicaltrials.gov/search?cond=inborn%20mitochondrial%20metabolism%20disorder.
Actionable guidance for navigating care for inborn mitochondrial metabolism disorder
To navigate your care effectively, it is advisable to seek specialists such as a geneticist or a metabolic disease specialist with experience in mitochondrial disorders. While no specific patient organizations are identified for this condition, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Consider participating in clinical trials or registries to contribute to ongoing research and gain access to potential treatments. Genetic counseling may also be beneficial, especially given the involvement of multiple genes.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 31, 2026
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 1 company has orphan drug designations for this disease
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.