3-methylcrotonyl-CoA carboxylase deficiency (3-MCC)
3-methylcrotonyl-CoA carboxylase deficiency (3-MCC) is an inherited condition in which the body is unable to break down certain proteins properly. 3-MCC is an organic acid condition because it can lead to harmful amounts of organic acids and toxins in the body. Symptoms of 3-MCC vary. Infants with 3-MCC deficiency appear normal at birth but usually develop signs and symptoms in infancy or early childhood. The signs can range from mild to life-threatening. Symptoms of 3-MCC include feeding difficulties, repeated episodes of vomiting and diarrhea, excessive tiredness, and weak muscle tone. Many of these complications can be prevented with early detection and lifelong management with a low-protein diet and appropriate supplements. Early detection and treatment can often help children with 3-MCC lead healthy lives.
This condition is also known as: 3-MCC deficiency, 3-methylcrotonylglycinuria, BMCC deficiency, methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonylglycinuria.
For more information about 3-methylcrotonyl-CoA carboxylase deficiency, visit Baby's First Test: 3-methylcrotonyl-CoA carboxylase deficiency and Screening, Technology, and Research in Genetics (STAR-G): 3-methylcrotonyl-CoA carboxylase deficiency. Please see Medically Prescribed Formula for information about medically prescribed formula and pharmacologic interventions for inborn errors of metabolism. Visit Pediatric Metabolic Providers for a listing of medical specialists and clinic contact information.