Paula Avram

TL;DR: For patients with MMA, propionic aciduria (PA) and OTC deficiency (male and female), hyperammonemia was more severe in metabolic crises during than after the newborn period, whereas metabolic acidosis tended to be moresevere in MMA and PA patients with late onset of symptoms.

TL;DR: Neurologic impairment is common in OAD and UCD, whereas the involvement of other organs follows a disease-specific pattern, and the identification of unexpected chronic renal failure in GA1 and ASL deficiency emphasizes the importance of a systematic follow-up in patients with rare diseases.