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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"

Variants (also called mutations) in the MCCC1 or MCCC2 gene cause 3-methylcrotonyl-CoA carboxylase deficiency. The condition is sometimes referred to as 3-methylcrotonyl-CoA carboxylase 1 deficiency or 3-methylcrotonyl-CoA carboxylase 2 deficiency depending on the specific gene that is affected. These two genes provide instructions for making different parts (subunits) of an enzyme called 3-methylcrotonyl-CoA carboxylase (MCC). This enzyme plays a critical role in breaking down proteins obtained from food. Specifically, MCC is responsible for the fourth step in the breakdown of leucine, an amino acid that is part of many proteins.

Variants in the MCCC1 or MCCC2 gene reduce or eliminate the activity of MCC, preventing the body from processing leucine properly. In some people, these variants do not cause signs or symptoms. In others, toxic byproducts of leucine processing build up to harmful levels, which can damage the brain. This damage underlies the signs and symptoms of MCC deficiency.

MedlinePlus Genetics: Causes

","key":"forms","title":"What causes 3-methylcrotonyl-CoA carboxylase deficiency?"},{"bodyHtml":"

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.

Source: MedlinePlus Genetics

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