Niemann Pick Type A
Niemann Pick Type A is a severe genetic disorder that affects the body’s ability to metabolize fats, leading to severe brain damage and nerve loss.
Impact of Gene Variants
This condition is caused by mutations in the SMPD1 gene, leading to a deficiency in acid sphingomyelinase, a lysosomal enzyme.
Ways to Recognize Problems
Symptoms usually develop within the first few months of life, including swelling of the abdomen, difficulty feeding, and loss of muscle tone.
Ways to Improve
While there is no known cure, supportive care can help manage symptoms.
Did you know
Niemann Pick Type A is most often found in Jewish families and children with this type rarely live beyond 18 months.
