Abstract：

Methylmalonic and propionic acidemia (MMA/PA) are inborn errors of metabolism characterized by accumulationof propionic acid and/or methylmalonic acid due to deficiency of methylmalonyl-CoA mutase (MUI} or propionyl-CoAcarboxylase (PCC). MMA has an estimated incidence of一1:50.000 and PA of一1:100'000一150,000. Patients present either shortly after birth with acute deterioration, metabolic acidosis and hyperammonemia or later at any age with a more heterogeneous clinical picture, leading to early death or to severe neurological handicap in many survivors.Mental outcome tends to be worse in PA and late complications include chronic kidney disease almost exclusively in MMA and cardiomyopathy mainly in PA. Except for vitamin B}2 responsive forms of MMA the outcome remains poor

despite the existence of apparently efFective therapy with a low protein diet and carnitine. This may be related to underre cognition and delayed diagnosis due to nonspecific clinical presentation and insufficient awareness of health care

professionals because of disease rarity....

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