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Table 2 Frequency of different clinical presentations of MMA&PA

From: Methylmalonic and propionic acidemia among hospitalized pediatric patients: a nationwide report

 MMA (n = 2610)PA (n = 538)
Nervous system
 Seizures/ Epilepsy382 (14.64%)78 (14.50%)
 Developmental delay204 (7.82%)51 (9.48%)
 Encephalopathy165 (6.32%)40 (7.43%)
 Movement disorder/Dystonia74 (2.84%)16 (2.97%)
 Altered level of consciousness4 (0.15%)0
 Optic atrophy1 (0.04%)1 (0.19%)
Kidney
 Acute renal failure14 (0.54%)3 (0.56%)
 Chronic renal failure20 (0.77%)1 (0.19%)
 Chronic renal insufficiency32 (1.23%)0
Heart
 Cardiomyopathy100 (3.83%)21 (3.90%)
 Cardiac insufficiency93 (3.56%)5 (0.93%)
 Arrhythmia21 (0.80%)8 (1.49%)
 Prolonged QTc interval03 (0.56%)
Gastrointestinal system
 Failure to thrive123 (4.71%)37 (6.88%)
 Abnormal feeding behavior66 (2.53%)11 (2.04%)
 Vomiting/Ketoacidosis5 (0.19%)1 (0.19%)
 Pancreatitis1 (0.04%)0
 Hepatomegaly2 (0.08%)0
Hematologic findings
 Neutropenia84 (3.22%)30 (5.58%)
 Pancytopenia8 (0.31%)10 (1.86%)
 Involvement of bone marrow9 (0.34%)5 (0.93%)
Immune system
 Immunodeficiency9 (0.34%)3 (0.56%)
Others
 Skin lesions42 (1.61%)8 (1.49%)
 Hearing loss27 (1.03%)5 (0.93%)
 Visual deterioration6 (0.23%)0