Table 11. [Sample Emergency Management Protocol for Individuals with MADD]. - GeneReviews®

From: Multiple Acyl-CoA Dehydrogenase Deficiency

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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Patient identification details	Name: _____________________________________________________ Date of birth: ________________________________________________ Medical record number: _______________________________________
Diagnosis	This individual has been diagnosed with multiple acyl-CoA dehydrogenase deficiency (MADD). MADD is an inherited disorder of fatty acid and amino acid metabolism.
Warning signs/ symptoms	Intercurrent infections, poor oral intake, vomiting, or diarrhea can precipitate metabolic decompensation leading to vomiting, lethargy, metabolic acidosis, lactic acidosis, and coma. Prompt provision of adequate calories (reversal of catabolism) and intravenous fluids are essential. If not adequately treated, patients can develop severe hypoglycemia, liver failure, muscle breakdown, kidney failure, and permanent neurologic damage. Severe morbidity and even death can occur.
Emergency room management	Start intravenous fluid immediately even if not clinically dehydrated with 10% dextrose and appropriate electrolytes at 1.5 times maintenance rate. It is imperative to prevent or reverse catabolism immediately. Correct metabolic acidosis by giving sodium bicarbonate if acidosis is severe (pH <7.10 or bicarbonate <10 mEq/L). Do not wait for results of laboratory evaluation before starting intravenous fluids with glucose. Monitor blood glucose levels every 1-2 hours initially and maintain glucose levels above 100 mg/dL.
Laboratory evaluation	Urgent labs: STAT blood gas (arterial or venous), ammonia, and lactic acid Glucose, liver transaminases (AST, ALT) Electrolytes with bicarbonate, blood urea nitrogen (BUN), creatinine Creatine kinase (CK) Complete blood counts (CBC) with differential and additional evaluation when infection is suspected. Additional labs to be sent if feasible: Plasma free and total carnitine, plasma acylcarnitine profile, urine organic acids
Metabolic center contact	Emergency contact phone or pager of the patient's metabolic center should be provided here. Stabilization of the patient should be the first priority.