Primary carnitine deficiency
Other Names for this Disease
- Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine
- Carnitine plasma-membrane transporter deficiency
- Carnitine transporter deficiency
- Carnitine uptake defect
- Carnitine uptake deficiency
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Primary carnitine deficiency is inherited in an autosomal recessive manner. Individuals have two copies of each gene, one of which is inherited from each parent. For an individual to have an autosomal recessive condition, he/she must have a mutation in both copies of the disease-causing gene. The parents of an affected individual, who each likely have one mutated copy, are referred to as carriers. Carriers typically do not have any signs or symptoms of the condition. When two carriers for an autosomal recessive condition have children together, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% risk to not have the condition and not be a carrier.
Last updated: 7/9/2012