Organic Acidaemias
3-Methylcrotonyl CoA Carboxylase Deficiency (3MCC)
Definition
3-methylcrotonyl-CoA carboxylase deficiency (3-MCC) is an inherited autosomal recessive disorder where the body is unable to process certain parts of proteins properly. 3-MCC is an organic acid condition because it can lead to harmful amounts of organic acids and toxins in the body.
Diagnosis
The condition is diagnosed during newborn screening via the heel prick test taken 48-72 hours after birth.
Prevalence
1:50,000 estimated worldwide.
Treatment
Treatment largely involves restricting protein intake to prevent the build-up of 3-hydroxyisovaleric acid and 3 methylcoronlglycine. Many 3-MCC individuals also require supplements of carnitine.
Support Links & Materials
Urea Cycle Disorders (UCD)
Ornithine Transcarbamylase Deficiency (OTC)
Citrullinaemia
Argininosuccinic Acidaemia (ASA)
Arginase Deficiency (ARG)