3-methylcrotonyl-CoA carboxylase deficiency (also called MCC deficiency) is an inherited disorder in which the body is unable to process certain proteins. People with this disorder have a shortage of an enzyme that helps break down proteins that contain a particular building block (amino acid) called leucine.
The signs and symptoms of MCC deficiency can vary among individuals, even among individuals in the same family. Some people with the genetic changes that cause MCC deficiency will not develop symptoms until adulthood, while many will never develop signs or symptoms.
Some affected individuals develop signs and symptoms in infancy or early childhood after an event such as an infection, a long period without food, or the introduction of a high-protein diet. Features of MCC deficiency may include feeding difficulties, delayed development, vomiting, excessive tiredness (lethargy), and weak muscle tone (hypotonia). If untreated, MCC deficiency can lead to seizures; breathing difficulties; and comas, which can be life-threatening.
Inheritance Pattern
Autosomal recessive
Other Names
3-MCC deficiency; 3-methylcrotonylglycinuria; BMCC deficiency; Deficiency of methylcrotonoyl-CoA carboxylase; MCC deficiency; MCCD; Methylcrotonyl-CoA carboxylase deficiency; Methylcrotonyl-coenzyme A carboxylase deficiency
Related Genetics Topics
- MCCC1 — MedlinePlus Genetics
- MCCC2 — MedlinePlus Genetics
Identifiers
- GTR: C1859499
- GTR: No longer reported
- MeSH: D008661
- OMIM: 210200
- OMIM: 210210
- SNOMED CT: 13144005
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
