3-methylcrotonyl-coa carboxylase deficiency (3-MCC)

Treatment

Is there a treatment for 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)?

Treatment for 3-Methylcrotonyl-CoA Carboxylase (3-MCC) deficiency is not standardized. Different metabolic centers have different treatment plans for people with 3-MCC deficiency. Treatment may include:

  • At some metabolic centers, patients with 3-MCC deficiency are put on a low-protein diet. Because the diet has less protein, typically a patient will then supplement their diet with special metabolic formulas and special low-protein medical foods. A low-protein diet should be carefully monitored by a metabolic dietitian.
  • Carnitine supplements may be recommended. Carnitine is a vitamin, and some people with 3-MCC deficiency have been found to have low levels of carnitine.
  • It might be recommended to eat frequently. When people go long periods without eating, their body breaks down protein in their body (this is called "catabolism"). Because people with 3-MCC deficiency cannot break down one of the protein components very well (leucine), when they eat frequent meals, their bodies consume protein from the diet, rather than the body's proteins. Protein-intake can be monitored carefully to ensure that the person with 3-MCC deficiency is not eating too much protein.
  • Lastly, when a person with 3-MCC deficiency is sick or not eating well, they may be admitted to the hospital to make sure they do not have a metabolic decompensation. By getting admitted to the hospital, the person can receive intravenous (IV) glucose to make sure their body has enough energy.

Metabolic physicians are still trying to determine what treatment is best for people who have 3-MCC deficiency. Speak with your doctor about what they recommend.

References

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