Table 5.

Medium-Chain Acyl-Co A Dehydrogenase Deficiency: Emergency Outpatient Treatment

ManifestationTreatmentConsideration/Other
Mildly ↑ catabolism 1
  • Carbohydrate supplementation orally or via enteral feed 2
  • ↑ of carnitine supplementation 3
  • Trial of outpatient treatment at home for up to 12 hrs
  • Reassessment (~every 2 hrs) for clinical changes 4
Fever Administration of antipyretics (acetaminophen, ibuprofen) for fever
Occasional vomiting Antiemetics 5
1.

Fever <38.5 °C (101 °F); enteral or gastrostomy tube feeding is tolerated without recurrent vomiting or diarrhea; absence of neurologic symptoms (altered consciousness, irritability, hypotonia, dystonia)

2.

Stringent guidelines to quantify carbohydrate/caloric requirements are available to guide nutritional arrangements in the outpatient setting, with some centers recommending frequent provision of carbohydrate-rich, protein-free beverages every two hours, with frequent reassessment.

3.

Controversy exists whether L-carnitine supplementation is necessary in MCAD deficiency.

4.

Alterations in mentation/alertness, fever, enteral feeding tolerance, and/or any new or evolving clinical features should be discussed with the designated center of expertise for inherited metabolic diseases.

5.

Some classes of antiemetics can be used safely on an occasional basis to temporarily improve enteral tolerance of food and beverages at home or during transfer to hospital.

From: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

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