Sb. Vandermeer et al., CLINICAL OUTCOME AND LONG-TERM MANAGEMENT OF 17 PATIENTS WITH PROPIONIC ACIDEMIA, European journal of pediatrics, 155(3), 1996, pp. 205-210
A retrospective study was performed on the clinical outcome and long-t
erm treatment of 17 patients with propionic acidaemia diagnosed during
the last 20 years in our hospital. The study group consisted of 12 pa
tients with early onset type of disease and 5 patients with late onset
. Seven (41%) patients died, five with early onset and two with late o
nset. The deceased early onset patients had a median survival of 0.4 y
ears while the deceased late onset patients died at the age of 2.8 and
4 years respectively. Median age of the living early onset patients w
as 5.2 (1-9.25) years, the late onset patients were 4, 7 and 23 years
old. Patients were all treated with natural protein restriction and in
most cases carnitine and metronidazole were added. The early onset pa
tients were almost all treated with daily home tube feeding. The mean
natural protein intake of early onset patients (6.3 +/- 1.5 g/day) was
significantly lower than the natural protein intake of late onset pat
ients (17.6 +/- 5.3 g/day). Supplemental protein intake was higher in
early onset patients.The general neurological outcome of our study gro
up was satisfactory with a better outcome for early onset patients. As
to growth, many patients showed a failure to thrive, this was particu
larly for height. The strong protein restriction during the first year
s of life probably contributed to this. Conclusion The prognosis for p
atients with propionic acidaemia appeared to be satisfactory in terms
of survival and outcome characteristics such as neurological and menta
l-development. Despite these results the authors feel that the prognos
is and quality of life of these patients might be improved with liver
transplantation or possibly somatic gene therapy in the future.