Multiple mitochondrial dysfunctions syndrome 1

Common Name(s)

Multiple mitochondrial dysfunctions syndrome 1

Multiple mitochondrial dysfunctions syndrome is a severe autosomal recessive disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death (summary by {4:Seyda et al., 2001}). Genetic Heterogeneity of Multiple Mitochondrial Dysfunctions Syndrome See also MMDS2 ({614299}), caused by mutation in the BOLA3 gene ({613183}) on chromosome 2p13; MMDS3 ({615330}), caused by mutation in the IBA57 gene ({615316}) on chromosome 1q42; MMDS4 ({616370}), caused by mutation in the ISCA2 gene ({615317}) on chromosome 14q24; and MMDS5 ({617613}), caused by mutation in the ISCA1 gene ({611006}) on chromosome 9q21.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Multiple mitochondrial dysfunctions syndrome 1" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Multiple mitochondrial dysfunctions syndrome 1" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Multiple mitochondrial dysfunctions syndrome 1" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Multiple mitochondrial dysfunctions syndrome 1" returned 0 free, full-text review articles on human participants.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.