What is 3 alpha methylcrotonyl-coa carboxylase 2 deficiency?

What is 3 alpha methylcrotonyl-coa carboxylase 2 deficiency?

• 3 alpha methylcrotonyl-coa carboxylase 2 deficiency: A rare inherited disorder where lack of a certain enzyme (3-methylcrotonyl-Coa carboxylase) stops proteins with the amino acid leucine being metabolized normally by the body. The leucine builds up in the body and causes damage to the brain and nervous system. The severity of the condition is variable with some cases being mild enough to be asymptomatic. The condition differs from type 1 in that it originates as a defect in a different gene (MCC2 gene) but it causes the same enzyme deficiency.

3 alpha methylcrotonyl-coa carboxylase 2 deficiency is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that 3 alpha methylcrotonyl-coa carboxylase 2 deficiency, or a subtype of 3 alpha methylcrotonyl-coa carboxylase 2 deficiency, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

3 alpha methylcrotonyl-coa carboxylase 2 deficiency: Introduction

How serious is 3 alpha methylcrotonyl-coa carboxylase 2 deficiency?

Complications of 3 alpha methylcrotonyl-coa carboxylase 2 deficiency: see complications of 3 alpha methylcrotonyl-coa carboxylase 2 deficiency

What are the symptoms of 3 alpha methylcrotonyl-coa carboxylase 2 deficiency?

Symptoms of 3 alpha methylcrotonyl-coa carboxylase 2 deficiency: see symptoms of 3 alpha methylcrotonyl-coa carboxylase 2 deficiency

Complications of 3 alpha methylcrotonyl-coa carboxylase 2 deficiency: see complications of 3 alpha methylcrotonyl-coa carboxylase 2 deficiency

3 alpha methylcrotonyl-coa carboxylase 2 deficiency: Testing

Misdiagnosis: see misdiagnosis and 3 alpha methylcrotonyl-coa carboxylase 2 deficiency.

How is it treated?

Treatments for 3 alpha methylcrotonyl-coa carboxylase 2 deficiency: see treatments for 3 alpha methylcrotonyl-coa carboxylase 2 deficiency

Name and Aliases of 3 alpha methylcrotonyl-coa carboxylase 2 deficiency

Main name of condition: 3 alpha methylcrotonyl-coa carboxylase 2 deficiency

3-MCC 2, 3 alpha methylcrotonylglycinuria 2, MCC 2 deficiency, Methylcrotonylglycinuria type 2

3 alpha methylcrotonylglycinuria 2, MCC 2 deficiency, Methylcrotonylglycinuria type 2
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

 » Next page: Prevalence and Incidence of 3 alpha methylcrotonyl-coa carboxylase 2 deficiency

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