Sample methylmalonic acidemia emergency department form

Guidelines for emergency department management

Diagnosis: Methylmalonic acidemia (MMA)

Name:

DOB:

MRN:

Patient is followed at ______________________ for the diagnosis of methylmalonic acidemia. Patient is at risk for life-threatening complications during times of illness.

We recommend patient is triaged IMMEDIATELY upon arrival to the emergency department

Common acute complications:
- Metabolic acidosis, ketoacidosis, hyperammonemia, hypoglycemia, seizures, encephalopathy, coma, pancytopenia, pancreatitis
Initial management:
- Place peripheral IV and initiate IV fluids
- If signs of dehydration: IV bolus of 10 to 20 cc/kg NS
- Hypoglycemia: IV bolus of 10 to 25% glucose
  - Neonates: 2 cc/kg, 10% solution
  - Children: 5 to 10 cc/kg, 10% solution
- Acidosis: Correct acidosis based on ABG/VBG
- Continuous IV fluids*: D10% with 1/4 NS, 1/2 NS, NS; Rate: 1.5x maintenance
Laboratory studies:
- Comprehensive metabolic panel
- Blood ammonia (STAT, free flowing sample)
- Dextrose stick
- Dip all urine voids for ketones
- Plasma amino acid quantitation
- Acylcarnitine profile
- Plasma methylmalonic acid
- Urine organic acid quantitation
- Urine analysis with microscopy
- If indicated:
  - ABG/VBG if patient is ill appearing or has respiratory decompensation
  - Blood culture if patient is ill appearing or has a central line in place
  - Complete blood count with differential if patient has signs of infection or abnormal bleeding
  - Lipase and amylase if patient has vomiting or abdominal pain
Contraindicated medications:
- Systemic glucocorticoids (unless otherwise specified by metabolism staff)
Discuss further management with a metabolic disease specialist at the hospital or contact the patient's specialist

DOB: date of birth; MRN: medical record number; IV: intravenous; NS: normal saline (isotonic saline, 0.9% solution of sodium chloride); ABG: arterial blood gas; VBG: venous blood gas; D10%: 10% dextrose.
* Monitor for signs of increased intracranial pressure.

Courtesy of Sarah Sheppard, MD, PhD and Can Ficicioglu, MD, PhD.

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Sample methylmalonic acidemia emergency department form