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3-Methylchrotonyl-CoA (3-MCC) Dehydrogenase Deficiency

This acute illness protocol is a guideline for healthcare professionals treating the sick infant/child who has previously been diagnosed with 3-methylchrotonyl-CoA dehydrogenase deficiency (3-MCC),¬†a leucine¬†disorder. The protocol was developed at Boston Children’s Hospital under the direction of Dr. Harvey Levy, Senior Physician in Medicine/Genetics and Dr. Jonathan Picker, Fragile X Program Director.

Metabolic crises in infants/children with leucine disorders are medical emergencies and must be treated as such to avoid death or serious brain injury.

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The care of patients with metabolic disorders is complex and it is essential that a metabolic specialist be contacted as rapidly as possible. This protocol is only a guideline and should not be used for definitive treatment without metabolic consultation.
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