3-Methylglutaconic Aciduria Type 9
Autoszomális recesszív
Caused by changes in both copies of TIMM50, which encodes part of the machinery that imports proteins into the mitochondria, the cell's energy-producing structures. Reduced TIMM50 function impairs mitochondrial energy production.
Tünetek és jelek
Often begins early in life with seizures, which can be difficult to control, alongside developmental delay and intellectual disability. Urine tests show raised 3-methylglutaconic acid, and blood lactate may be slightly raised. Heart muscle disease (cardiomyopathy) has also been reported.
Mit változtat a diagnózis
Care is supportive, with seizure treatment, developmental support and monitoring for heart involvement. Because it is recessive, parents are usually carriers, so each pregnancy carries a recurrence risk; genetic counselling and carrier testing of relatives are available.
Vizsgált gének
Más néven
3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome; MGA9; MGCA9
