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Table 3 Acute and chronic presentations of MMA/PA

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

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
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
  Hearing loss
  1. bold: typical signs and symptoms.
  2. standard: uncommon signs and symptoms.
  3. italics: signs and symptoms only reported in single patients.
  4. Grade of recommendation: D.