methylmalonyl coa mutase การใช้

• People with methylmalonyl CoA mutase deficiency exhibit many symptoms similar to other diseases involving inborn errors of metabolism.
• While methylmalonic acidemia has a variety of causes, both genetic and dietary, methylmalonyl CoA mutase deficiency is an autosomal recessive genetic disorder.
• Patients with a complete deletion suffer an inactivation of methylmalonyl CoA mutase and exhibit the most sever symptoms of the deficiency, while patients with a partial mutations have a wide range of symptoms.