Primary care
Recommendation 1
Appropriate referral to specialists and dietary adherence
3-methylcrotonyl-CoA carboxylase deficiency
Not yet reviewedThis information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.
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
ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.
Treatment
Recommendation 1
Low-leucine diet, and some patients benefit from L-Carnitine
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
Clinical Trials
Sources
No data available
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