From: Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
Triggers | Clinical signs and symptoms | Biochemical signs |
---|---|---|
Infection | Poor feeding | Metabolic acidosis (pH <7.3, anion gap >20 mmol/l, low pCO2 or base excess greater than -5 mmol/l) |
Fever | Vomiting | |
Prolonged fasting | Lethargy | Elevated blood lactate (>3 mmol/l) |
Medication (e.g. chemotherapy, high dose glucocorticoids) | Hypotonia | Hyperammonemia |
Prolonged or intense physical exercise, surgery and/or general anesthesia | Irritability | Ketonuria (greater than trace in infants or greater than + in children) |
Acute trauma, significant hemorrhage | Respiratory distress | Uric acid and/or elevated urinary urea (urea/creatinine > 20) as signs of catabolism |
Psychological stress | Hypothermia | Neutropenia |
Excessive protein intake | Dehydration and weight loss | Thrombocytopenia |