TY  - JOUR
U1  - Zeitschriftenartikel, wissenschaftlich - begutachtet (reviewed)
A1  - Sass, J. O.
A1  - Hofmann, M.
A1  - Skladal, D.
A1  - Mayatepek, E.
A1  - Schwahn, B.
A1  - Sperl, W.
T1  - Propionic acidemia revisited: a workshop report
JF  - Clin Pediatr. (Clinical Pediatrics)
N2  - Propionic acidemia (PA) is one of the most frequent organic acidurias, but information on the outcome of individuals with PA is rather limited. We present data of 49 patients with PA, which were gathered from 18 metabolic centers throughout Central Europe on the occasion of an international workshop. All patients were identified by selective metabolic screening, and 86% of them were classified as having early-onset PA owing to their presentation with clinical symptoms within the first 90 days of life. Mortality rate was one third, and details of symptoms and treatment of the surviving patients are discussed. The great variation of phenotypic expression of the disease and different therapeutic strategies (especially in regard to the degree of protein restriction) used at the various institutions involved in this study imply the need for a registry of PA patients and for a multicenter prospective treatment study.
Y1  - 2004
SN  - 0009-9228
SS  - 0009-9228
U6  - https://doi.org/10.1177/000992280404300908
DO  - https://doi.org/10.1177/000992280404300908
PM  - 15583780
VL  - 43
IS  - 9
SP  - 837
EP  - 843
PB  - Sage
ER  -