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What is 3-methylcrotonyl-CoA carboxylase deficiency?

What is 3-methylcrotonyl-CoA carboxylase deficiency?

  • 3-methylcrotonyl-CoA carboxylase 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.

3-methylcrotonyl-CoA carboxylase 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-methylcrotonyl-CoA carboxylase deficiency, or a subtype of 3-methylcrotonyl-CoA carboxylase deficiency, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list 3-methylcrotonyl-CoA carboxylase deficiency as a "rare disease".
Source - Orphanet

3-methylcrotonyl-CoA carboxylase deficiency: Introduction

Types of 3-methylcrotonyl-CoA carboxylase deficiency:

Broader types of 3-methylcrotonyl-CoA carboxylase deficiency:

How many people get 3-methylcrotonyl-CoA carboxylase deficiency?

Prevalance of 3-methylcrotonyl-CoA carboxylase deficiency: estimated 1 per 50,000 people suffer from 3-methylcrotonyl-CoA carboxylase deficiency, Genetics Home Reference website
Prevalance Rate of 3-methylcrotonyl-CoA carboxylase deficiency: approx 1 in 50,000 or 0.00% or 5,440 people in USA [about data]

How serious is 3-methylcrotonyl-CoA carboxylase deficiency?

Complications of 3-methylcrotonyl-CoA carboxylase deficiency: see complications of 3-methylcrotonyl-CoA carboxylase deficiency

What causes 3-methylcrotonyl-CoA carboxylase deficiency?

Causes of 3-methylcrotonyl-CoA carboxylase deficiency: see causes of 3-methylcrotonyl-CoA carboxylase deficiency

What are the symptoms of 3-methylcrotonyl-CoA carboxylase deficiency?

Symptoms of 3-methylcrotonyl-CoA carboxylase deficiency: see symptoms of 3-methylcrotonyl-CoA carboxylase deficiency

Complications of 3-methylcrotonyl-CoA carboxylase deficiency: see complications of 3-methylcrotonyl-CoA carboxylase deficiency

Onset of 3-methylcrotonyl-CoA carboxylase deficiency: infancy or early childhood

Can anyone else get 3-methylcrotonyl-CoA carboxylase deficiency?

More information: see contagiousness of 3-methylcrotonyl-CoA carboxylase deficiency
Inheritance: see inheritance of 3-methylcrotonyl-CoA carboxylase deficiency

3-methylcrotonyl-CoA carboxylase deficiency: Testing

Misdiagnosis: see misdiagnosis and 3-methylcrotonyl-CoA carboxylase deficiency.

How is it treated?

Doctors and Medical Specialists for 3-methylcrotonyl-CoA carboxylase deficiency: Medical Geneticist ; see also doctors and medical specialists for 3-methylcrotonyl-CoA carboxylase deficiency.
Treatments for 3-methylcrotonyl-CoA carboxylase deficiency: see treatments for 3-methylcrotonyl-CoA carboxylase deficiency
Research for 3-methylcrotonyl-CoA carboxylase deficiency: see research for 3-methylcrotonyl-CoA carboxylase deficiency

Name and Aliases of 3-methylcrotonyl-CoA carboxylase deficiency

Main name of condition: 3-methylcrotonyl-CoA carboxylase deficiency

Other names or spellings for 3-methylcrotonyl-CoA carboxylase deficiency:

BMCC deficiency, deficiency of methylcrotonoyl-CoA carboxylase, 3-MCC, MCC deficiency, Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonylglycinuria

3-Methylcrotonylglycinuria type 1, BMCC deficiency Source - Diseases Database

3 Methylcrotonylglycinuria, 3 alpha methylcrotonylglycinuria 1, MCC 1 deficiency, 3 alpha methylcrotonyl-Coa carboxylase 1 deficiency
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

3-methylcrotonyl-CoA carboxylase deficiency: Related Conditions

Research the causes of these diseases that are similar to, or related to, 3-methylcrotonyl-CoA carboxylase deficiency:

 

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