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Published on: July 31, 2016
Clinical outcome and long-term management of 17 patients with propionic acidaemia
S B van der Meer1, F Poggi, M Spada
1Hopital Enfants Malades, Unite de metabolisme, Paris, France.
Insights
Propionic acidaemia (PA) management in 17 patients showed satisfactory neurological outcomes, but growth issues persisted. Future treatments like liver transplantation may improve prognosis for this rare metabolic disorder.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Propionic acidaemia (PA) is a rare autosomal recessive metabolic disorder.
- It results from deficiencies in the propionyl-CoA carboxylase (PCC) enzyme complex.
- PA leads to accumulation of toxic metabolites, causing severe health complications.
Purpose of the Study:
- To evaluate the clinical outcomes and long-term treatment of patients with propionic acidaemia.
- To assess survival rates, neurological development, and growth patterns.
- To identify factors influencing patient prognosis.
Main Methods:
- Retrospective study of 17 PA patients diagnosed over 20 years.
- Analysis of clinical data, treatment regimens (protein restriction, carnitine, metronidazole, tube feeding), and patient outcomes.
- Comparison between early-onset and late-onset disease types.
Main Results:
- Seven out of 17 patients (41%) died, with earlier mortality in the early-onset group.
- Living early-onset patients had a median age of 5.2 years; late-onset patients were older.
- Neurological outcomes were generally satisfactory, particularly in early-onset cases, but growth failure (especially height) was common, potentially linked to protein restriction.
Conclusions:
- Propionic acidaemia prognosis is satisfactory regarding survival and neurodevelopmental outcomes.
- Growth failure is a significant concern, possibly due to early-life protein restriction.
- Liver transplantation or somatic gene therapy may offer future improvements in prognosis and quality of life.
Unlabelled:
A retrospective study was performed on the clinical outcome and long-term treatment of 17 patients with propionic acidaemia diagnosed during the last 20 years in our hospital. The study group consisted of 12 patients with early onset type of disease and 5 patients with late onset. Seven (41%) patients died, five with early onset and two with late onset. The deceased early onset patients had a median survival of 0.4 years 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 was 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 patients 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 patients (17.6 +/- 5.3 g/day). Supplemental protein intake was higher in early onset patients. The general neurological outcome of our study group was satisfactory with a better outcome for early onset patients. As to growth, many patients showed a failure to thrive, this was particularly for height. The strong protein restriction during the first years of life probably contributed to this.
Conclusion:
The prognosis for patients with propionic acidaemia appeared to be satisfactory in terms of survival and outcome characteristics such as neurological and mental development. Despite these results the authors feel that the prognosis and quality of life of these patients might be improved with liver transplantation or possibly somatic gene therapy in the future.
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