Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
University Children's Hospital Zurich · Heidelberg University · +21 more institutions
Abstract
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 ~ 1: 50,000 and PA of ~ 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.…
Citation impact
- FWCI
- 18.60
- Percentile
- 100%
- References
- 289
Authors
25Topics & keywords
- Methylmalonic acidemia
- Propionic acidemia
- Methylmalonic acid
- Mutase
- Methylmalonic aciduria
- Newborn screening
- Hyperammonemia
- Medicine
Funding
- UKUniverzita Karlova v Praze
- IDInstitut des maladies génétiques Imagine
- CNChildren's National Hospital
- OPOspedale Pediatrico Bambino Gesù
- UDUniversità degli Studi di Padova
- UAUniversidad Autónoma de Madrid
- RRigshospitalet
- HÜHacettepe Üniversitesi
- UZUniversität Zürich
- UZUniversitätsspital Zürich
- VFVšeobecná Fakultní Nemocnice v Praze
- LFlékařská fakulta Univerzity Karlovy