In this podcast, Professor Mochel emphasizes the importance of a dialogue between pediatricians and adult physicians for the understanding and management of inherited metabolic diseases and leukodystrophies.
In this podcast, we discuss the clinical presentations and imaging findings of adult patients with MTHFR (methylenetetrahydrofolate reductase) deficiency. This rare disease, often associated with leukodystrophy, is treatable but still under-recognized in adults. Most patients develop symptoms in childhood, but adult-onset forms exist, making it important for neurologists and internists to know about this condition and search for it through the measurement of homocystein levels.