How is MMA diagnosed?
Prior to the advent of newborn screening for this disorder, MMA was diagnosed when an infant or child failed to thrive, had trouble feeding, low muscle tone, delayed development and/or showed symptoms/lab results indicating acidosis, ketosis, or elevated ammonia. Newborn screening detects some organic acidemias and further blood tests and a skin biopsy complete the final diagnostic evaluation. Specifically, in MMA newborns, the level of propionyl carnitine is elevated. With newborn screening, babies can be rapidly treated before metabolic decompensation can occur.
