Table 5 Frequencies of signs & symptoms reported in 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]