Classification and goals - PA/MMA

MMA and PA can be classified in an early onset or late onset form, depending on the age of onset.

Early onset patients present in the neonatal age with acute decompensation, such as lethargy, poor feeding, tachypnea, vomiting and seizures. This will develop into a life threatening situation, progressing in coma and death if unmanaged.¹

The late onset of MMA/PA can present at any time in life from infancy on, with less severe symptoms, such as feeding difficulties, failure to thrive and psychomotor retardation, late-onset acute metabolic decompensation with acidosis and movement disorders².

The long term prognosis for MMA/PA has improved considerably in the last decades with increased survival rates of >60% for the severe forms and >90% for the late-onset forms over the past 20 years. Still, a majority of early-onset patients suffer renal failure, cognitive impairment, physical disability and neurological problems.

References

Grunert SC, Mullerleile S et al. Propionic academia: neonatal versus selective metabolic screening. J Inherit Metab Dis 2012;35:41-49
Grunert SC, Mullerleile S et al. Propionic academia clinical course and outcome in 55 pediatric and adolescent patients. Orphanet J Rare Dis 2013;8:6.)