Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience

In conclusion, dopamine deficiency clinical signs were present in some patients with mitochondrial diseases with different genetic backgrounds. High CSF HVA values, together with a severe cerebral folate deficiency, were observed in KSS patients and in other mtDNA mutation syndromes.

http://link.springer.com/10.1007/s10545-018-0224-x

Source: Journal of Inherited Metabolic Disease - July 4, 2018 Category: Internal Medicine Source Type: research