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| Disease found: | 3-methylcrotonyl-CoA carboxylase deficiency |
| Current as of: | October 8, 2024 |
| 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. [more info] |
| Signs and Symptoms: | Metabolic crisis, poor appetite, lack of energy, irritability, weakness, nausea and/or vomiting, developmental delay, seizures, coma, and even death [more info] |
| Diagnosis: | Diagnosis of MCC deficiency is confirmed by assaying MCC and PCC activity [more info] |
| Treatment: | Low-leucine diet, and some patients benefit from L-Carnitine [more info] |
| Clinical Management: | Appropriate referral to specialists and dietary adherence [more info] |
| Referral: | 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: | One clinical trial currently recruiting |