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Niemann-Pick Disease Learning Center
Causes could include:
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Niemann-Pick disease Type A and B occur when cells in the body lack an enzyme called acid sphingomyelinase (ASM). ASM helps break down (metabolize) a fatty substance called sphingomyelin, which is found in every cell of the body. If ASM is missing...
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Niemann-Pick disease is caused by an autosomal recessive genetic trait, therefore the condition will not appear unless a person receives the same defective gene for fat metabolism from each parent. This means that if a person is heterozygous for t...
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All forms of NPD are inherited autosomal recessive disorders, requiring the presence of an inherited genetic mutation in only one copy of the gene responsible for the disease. Both males and females are affected equally. Types A and B are both cau...
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Niemann-Pick disease is caused by an autosomal recessive genetic trait, therefore the condition will not appear unless a person receives the same defective gene for fat metabolism from each parent. This means that if a person is heterozygous for t...
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Autosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families. An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop.
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