2-methylbutyryl- CoA Dehydrogenase deficiency

Gene
ACADSB
Location
10q26.13
Disease
2-methylbutyryl- CoA Dehydrogenase deficiency
Description
2-methylbutyryl-CoA Dehydrogenase deficiency is a type of organic acid disorder in which the body is unable to process proteins properly
Signs and Symptoms
The initial symptoms often include poor feeding, lack of energy, vomiting, and an irritable mood. These symptoms sometimes progress to serious medical problems such as difficulty breathing, seizures, and coma. Additional problems can include poor growth, vision problems, learning disabilities, muscle weakness, and delays in motor skills such as standing and walking.
Type
Organic Acid Disorder
Category
Secondary

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