3-methylcrotonyl-coa carboxylase deficiency (3-MCC)
Healthcare/Doctors
How do I find a center of excellence in 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)?
If your child was diagnosed through newborn screening, the newborn screening program in your state will refer you to a specialist in 3-Methylcrontyl-CoA Carboxylase (3-MCC) deficiency.
Other lists of specialists treating 3-MCC deficiency can be found at these websites:
More Healthcare/Doctors Content
What specialist doctors should I see with 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)?
What specialist doctors should I see with 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)?
A person with 3-Methylcrotonyl-CoA Carboxylase (3-MCC) deficiency should be seen by a doctor called a "medical geneticist", "metabolic physician" or "biochemical geneticist". These specialists are familiar with 3-MCC deficiency. If your child has had a positive newborn screening test for 3-MCC deficiency, the newborn screening program in your state will be able to refer you to a metabolic geneticist.
References
- 3-methylcrotonyl CoA carboxylase deficiency. STAR-G. http://www.newbornscreening.info/Parents/organicaciddisorders/3MCC.html
If I have 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC), what should my doctor know about managing the disease?
If you have 3-Methylcrotonyl-CoA Carboxylase (3-MCC) deficiency, your doctor should know about the different treatment options and the different possible complications that can be seen. Biochemical geneticists can be found in an area by using the "Find Genetic Service" function at the American College of Medical Genetics website at Find Genetic Service.
References
- 3-methylcrotonyl-CoA carboxylase deficiency. Genetics Home reference. https://ghr.nlm.nih.gov/condition/3-methylcrotonyl-coa-carboxylase-deficiency
- Grunert, SC et al. 3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals. Orphanet Journal of Rare Diseases. 7:31. 2012. DOI: 10.1186/1750-1172-7-31.
