46 3-methylcrotonyl-coa carboxylase deficiency (3-mcc deficiency) is an inherited condition in which the body is unable to breakdown the amino acid, leucine (a building block of protein). some children with 3-mcc deficiency will begin developing signs and symptoms during infancy or early childhood; however, more recent studies suggest that many affected babies identified through newborn screening will never experience symptoms of the condition. 3-mcc deficiency may be associated with episodes of "metabolic crisis" in which affected people experience poor appetite, lack of energy, irritability, weakness, nausea and/or vomiting. if metabolic crises are untreated, the condition can lead to developmental delay, seizures, coma, and even death. 3-mcc deficiency is caused by changes (mutations) in mccc1 or mccc2 gene and is inherited in an autosomal recessive manner. treatment may include a low-leucine diet and appropriate supplements
Disease Interacts with Genes
Disease Interacts with Substances
Processes Associated With Trait
Molecular Function Associated With Trait
Biological Processes Associated With Trait
Pathways Associated With Trait
Symptoms Associated With Trait
Selected genes are highlighted in orange, bookmarked
genes are green
- Chemical increases gene,
- Chemical decreases gene,
- Chemical increases and decreases gene simultaneosly,
No arrows - gene doesn't interact with the chemical.
- Gene should be increased/decreased most of the time and the chemical does it.
- Gene should be increased/decreased most of the time but the chemical does the opposite.