What inheritance pattern is associated with Neimann-Pick Disease Type A?

Neimann-Pick Disease Type A is associated with an autosomal recessive inheritance pattern. This means that in order for a child to be affected by the disorder, they must inherit two copies of the mutated gene, one from each parent. Parents who each carry one copy of the mutated gene (known as carriers) typically do not exhibit symptoms of the disease, but there is a 25% chance in each pregnancy that the child will inherit both copies and express the disease.

Niemann-Pick Disease Type A is caused by a deficiency of the enzyme sphingomyelinase, which leads to the accumulation of sphingomyelin in various organs, notably the liver, spleen, and brain. This accumulation results in the clinical manifestations associated with the disease.

Understanding the inheritance pattern is crucial for genetic counseling and family planning for families affected by this condition. Testing for carrier status can help parents understand their risk of having an affected child, reinforcing the importance of autosomal recessive inheritance in this context.