We believe that MEPAN is an under-diagnosed condition, as patients may have a current diagnosis of cerebral palsy or Parkinson's Disease, or may not have a diagnosis at all. There are currently no reliable biomarkers for the disease, but patients typically have a T2 hyperintensity MRI signal in the basal ganglia, and some have shown elevated levels of 3-methylglutaconic or 3-OH-isovaleric acid acid in organic acid testing.
The only way to confirm a MEPAN diagnosis is through a genetic test. Unfortunately, the MECR gene that causes MEPAN is not yet included in many gene testing panels for movement disorders and mitochondrial disease, and we are currently conducting an outreach campaign to genetic testing labs around the world to ensure that MECR and MEPAN are included in the appropriate genetic panels.
The primary treatment recommendations for MEPAN patients are supplementation with alpha lipoic acid and medium chain triglycerides, which may help supply the octanoic acid that is a product of mtFAS and helps the body to synthesize lipoic acid needed for other biochemical processes.. Other supplements we have used include thiamine, riboflavin, a B-complex vitamin, vitamin C, vitamin E (with tocotrienols), N-aceytl-L-cysteine, and L-carnitine. Currently Carson and Chase are on a modified Atkins diet, which may help supply their mitochondria with ketones that can be used as an alternative energy source by the brain. More research is needed to determine if MEPAN may be suitable for advanced treatments such as enzyme replacement therapy, ASO therapy, or a gene therapy.
Please contact us at if you know of a MEPAN patient or family looking for more information.