Table 3.
Acute and chronic presentations of MMA/PA
| Acute presentation | Chronic presentation |
|---|---|
| Neonatal sepsis-like picture, temperature instability, respiratory distress, hyperventilation | Often episodic characteristic signs and symptoms |
| Nervous system | Nervous system |
| • Altered level of consciousness (from lethargy and somnolence to coma) mimicking encephalitis or drug intoxication | • Hypotonia |
| • Developmental delay (learning disabilities, intellectual disability) | |
| • Acute encephalopathy | • Movement disorders/dystonia |
| • Seizures (in general not isolated but in the context of altered level of consciousness) | • Seizures |
| • Movement disorders (more frequent in PA) | • Optic atrophy |
| • Stroke-like episodes (more frequent in MMA) | • Psychiatric symptoms (hallucinations, psychotic attacks) |
| Gastrointestinal system | Gastrointestinal system |
| • Vomiting and feeding difficulties | • Recurrent vomiting with ketoacidosis |
| • Abnormal feeding behavior (anorexia) | |
| • Failure to thrive | |
| • Constipation | |
| • Pancreatitis | |
| Hematologic findings | Hematologic findings |
| • Neutropenia, pancytopenia | • Neutropenia, pancytopenia |
| • Secondary hemophagocytosis (rare) | |
| Heart | Heart (more frequent in PA) |
| • Acute cardiac failure (mostly on basis of cardiomyopathy) | • Cardiomyopathy |
| • Arrhythmias | • Prolonged QTc interval in ECG |
| Kidney (more frequent in MMA) | |
| • Chronic renal failure in MMA | |
| Other | |
| • Dermatitis | |
| • Hearing loss |
bold: typical signs and symptoms.
standard: uncommon signs and symptoms.
italics: signs and symptoms only reported in single patients.
Grade of recommendation: D.