3-methylglutaconic aciduria type 5

3-methylglutaconic aciduria type 5 is a rare syndrome that usually begins in early childhood, typically before the age of three. It is most notably defined by a heart condition called dilated cardiomyopathy along with electrical conduction issues, such as long QT syndrome, which affect the heart's rhythm. In addition to these heart challenges, the syndrome is associated with non-progressive cerebellar ataxia, which can affect balance and coordination, as well as testicular dysgenesis and unusual levels of 3-methylglutaconic acid in the body. These features together mark the clinical profile of this condition.

Common symptoms seen in this syndrome include serious heart issues such as dilated cardiomyopathy and prolonged QT intervals that affect heart conduction. People with this condition might also experience difficulties with balance and coordination due to cerebellar ataxia, along with developmental differences related to testicular formation. Metabolic disturbances, indicated by abnormal levels of 3-methylglutaconic acid, are also part of the syndrome’s presentation.

This condition is caused by mutations in the DNAJC19 gene. These genetic alterations interfere with normal cell functions and lead to the various symptoms described, including heart irregularities, changes in movement coordination, and metabolic abnormalities.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about ongoing research is currently limited for this condition.