Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia


Baumgartner M. R. , Hoerster F., Dionisi-Vici C., Haliloglu G. , Karall D., Chapman K. A. , ...Daha Fazla

ORPHANET JOURNAL OF RARE DISEASES, cilt.9, 2014 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 9
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1186/s13023-014-0130-8
  • Dergi Adı: ORPHANET JOURNAL OF RARE DISEASES

Özet

Methylmalonic and propionic acidemia (MMA/PA) are inborn errors of metabolism characterized by accumulation of propionic acid and/or methylmalonic acid due to deficiency of methylmalonyl-CoA mutase (MUT) or propionyl-CoA carboxylase (PCC). MMA has an estimated incidence of similar to 1: 50,000 and PA of similar to 1: 100'000 -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-12 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 under recognition and delayed diagnosis due to nonspecific clinical presentation and insufficient awareness of health care professionals because of disease rarity.