Метилмалонова ацидемія, не чутлива до вітаміну В12, тип mut0

Визначення(English summary)

Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.