Skip to main content

Table 5 Frequencies of signs & symptoms reported in MMA/PA

From: Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

Sign/symptom Frequency References
  MMA PA MMA PA
Developmental delay 25-65% 59-100% [25],[26],[29] [21]-[24],[27],[30],[32],[33],[55]
Encephalopathy Frequent during metabolic crises, but no specific data 21-30% [26] [7],[21]-[23],[56],[57]
Hypotonia No data 56-100%   [21]-[23],[27],[30]
Seizures/epilepsy 16-53% 25-53% [25],[26],[58] [7],[13],[23],[24],[27],[35],[55],[59]
Movement disorder 30-45% 40% [25],[29],[58] [33]
Metabolic stroke like events & basal ganglia lesions Up to 35% >10 cases [26],[29],[48],[58] [7],[20]-[22],[35],[55],[59]-[65]
Optic atrophy Single cases >10 cases [66]-[68] [22],[68],[69]
Neuropsychiatric symptoms Rare rare [25] [36],[37]
Chronic renal failure 28-47% 4 cases [25],[26],[48] [27],[55],[70]
Cardiomyopathy Few cases 9-23% [26],[71] [32],[44],[55]
Prolonged QTc interval Not reported 37 cases   [21],[22],[31],[38],[40],[41],[55],[56]
Pancreatitis 22 cases 7 cases [25],[26],[72],[73] [21],[22],[72],[74]-[76]
Immunodeficiency Rare rare [77] [7],[77]-[79]