3-methylcrotonyl-CoA carboxylase deficiency

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Disease overview

Autosomal recessive coniditon caused by mutations in MCCC1 or MCCC2 gene in which the body is unable to breakdown the amino acid, leucine.

Common symptoms

Metabolic crisispoor appetitelack of energyirritabilityweaknessnausea and/or vomitingdevelopmental delayseizurescomaand even death

WHEN TO SUSPECT

  • Recommendation 1

    Diagnosis of MCC deficiency is confirmed by assaying MCC and PCC activity

HOW TO TEST

  • Recommendation 1

    Diagnosis of MCC deficiency is confirmed by assaying MCC and PCC activity

TREATMENT

  • Recommendation 1

    Low-leucine diet, and some patients benefit from L-Carnitine

PRIMARY CARE

  • Recommendation 1

    Appropriate referral to specialists and dietary adherence

FURTHER SUPPORT

  • Recommendation 1

    Metabolic Support UK reccomends various clinics. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.

CLINICAL TRIALS

  • Recommendation 1

    One clinical trial currently recruiting

Sources

No data available

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