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/ Epilepsy | 382 (14.64%) | 78 (14.50%) |
 Developmental delay | 204 (7.82%) | 51 (9.48%) |
 Encephalopathy | 165 (6.32%) | 40 (7.43%) |
 Movement disorder/Dystonia | 74 (2.84%) | 16 (2.97%) |
 Altered level of consciousness | 4 (0.15%) | 0 |
 Optic atrophy | 1 (0.04%) | 1 (0.19%) |
Kidney | ||
 Acute renal failure | 14 (0.54%) | 3 (0.56%) |
 Chronic renal failure | 20 (0.77%) | 1 (0.19%) |
 Chronic renal insufficiency | 32 (1.23%) | 0 |
Heart | ||
 Cardiomyopathy | 100 (3.83%) | 21 (3.90%) |
 Cardiac insufficiency | 93 (3.56%) | 5 (0.93%) |
 Arrhythmia | 21 (0.80%) | 8 (1.49%) |
 Prolonged QTc interval | 0 | 3 (0.56%) |
Gastrointestinal system | ||
 Failure to thrive | 123 (4.71%) | 37 (6.88%) |
 Abnormal feeding behavior | 66 (2.53%) | 11 (2.04%) |
 Vomiting/Ketoacidosis | 5 (0.19%) | 1 (0.19%) |
 Pancreatitis | 1 (0.04%) | 0 |
 Hepatomegaly | 2 (0.08%) | 0 |
Hematologic findings | ||
 Neutropenia | 84 (3.22%) | 30 (5.58%) |
 Pancytopenia | 8 (0.31%) | 10 (1.86%) |
 Involvement of bone marrow | 9 (0.34%) | 5 (0.93%) |
Immune system | ||
 Immunodeficiency | 9 (0.34%) | 3 (0.56%) |
Others | ||
 Skin lesions | 42 (1.61%) | 8 (1.49%) |
 Hearing loss | 27 (1.03%) | 5 (0.93%) |
 Visual deterioration | 6 (0.23%) | 0 |