Table 6b.

Classic Isovaleric Acidemia: Emergency Outpatient Treatment

ManifestationTreatmentConsideration/Other
Mildly increased catabolism 1
  • Carbohydrate supplementation orally or via tube feeding 2
  • Transient reduction of natural protein intake 3
  • Increase carnitine supplementation (up to 200 mg/kg/day)
  • Glycine supplementation (up to 300 mg/kg/day)
  • Trial of outpatient treatment at home for up to 12 hours
  • Reassessment (~every 2 hours) for clinical changes 4
Fever Administration of antipyretics (acetaminophen, ibuprofen) if temperature rises >38.5 °C
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.

Some centers advocate additional steps such as reducing natural protein intake to zero or to 50% of the normal prescribed regimen for short periods (<24 hours) in the outpatient setting during intercurrent illness.

4.

Alterations in mentation/alertness, fever, and enteral feeding tolerance, with any new or evolving clinical features 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 the hospital.

From: Classic Isovaleric Acidemia

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