What is 2-methylbutyryl-coenzyme A dehydrogenase deficiency?

What is 2-methylbutyryl-coenzyme A dehydrogenase deficiency?

• 2-methylbutyryl-coenzyme A dehydrogenase deficiency: A very rare genetic disorder where an enzyme deficiency prevents the break down of certain proteins into energy and results in a harmful accumulation of acids in the blood and body tissues. More specifically, there is a deficiency of an enzyme (2-methylbutyryl-coenzyme A dehydrogenase) needed to convert the amino acid isoleucine into energy. 2-methylbutyrylglycine levels build up in the body and may cause damage. Symptoms vary according to the degree of enzyme deficiency - can range from asymptomatic to life-threatening.

2-methylbutyryl-coenzyme A dehydrogenase deficiency: Introduction

How many people get 2-methylbutyryl-coenzyme A dehydrogenase deficiency?

Prevalance of 2-methylbutyryl-coenzyme A dehydrogenase deficiency: 1 per 250 - 500 people from Hmong populations in southeast Asia and America suffer from 2-methylbutyryl-coenzyme A dehydrogenase deficiency though many are asymptomatic, Genetics Home Reference website
Prevalance Rate of 2-methylbutyryl-coenzyme A dehydrogenase deficiency: approx 1 in 249 or 0.40% or 1.1 million people in USA [about data]

How serious is 2-methylbutyryl-coenzyme A dehydrogenase deficiency?

Complications of 2-methylbutyryl-coenzyme A dehydrogenase deficiency: see complications of 2-methylbutyryl-coenzyme A dehydrogenase deficiency

What are the symptoms of 2-methylbutyryl-coenzyme A dehydrogenase deficiency?

Symptoms of 2-methylbutyryl-coenzyme A dehydrogenase deficiency: see symptoms of 2-methylbutyryl-coenzyme A dehydrogenase deficiency

Complications of 2-methylbutyryl-coenzyme A dehydrogenase deficiency: see complications of 2-methylbutyryl-coenzyme A dehydrogenase deficiency

Onset of 2-methylbutyryl-coenzyme A dehydrogenase deficiency: birth or childhood

2-methylbutyryl-coenzyme A dehydrogenase deficiency: Testing

Misdiagnosis: see misdiagnosis and 2-methylbutyryl-coenzyme A dehydrogenase deficiency.

How is it treated?

Treatments for 2-methylbutyryl-coenzyme A dehydrogenase deficiency: see treatments for 2-methylbutyryl-coenzyme A dehydrogenase deficiency

Name and Aliases of 2-methylbutyryl-coenzyme A dehydrogenase deficiency

Main name of condition: 2-methylbutyryl-coenzyme A dehydrogenase deficiency

2-MBCD deficiency, 2-MBG, 2-methylbutyryl glycinuria, SBCADD, short/branched-chain acyl-CoA dehydrogenase deficiency

 » Next page: Prevalence and Incidence of 2-methylbutyryl-coenzyme A dehydrogenase deficiency

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