Niemann–Pick disease, SMPD1-associated
| Niemann–Pick disease, SMPD1-associated | |
|---|---|
| Specialty | Endocrinology |
Niemann–Pick disease, SMPD1-associated refers to two different types of
SMPD1
gene.
There are approximately 1,200 cases of NPA and NPB worldwide with the majority of cases being Type B or an intermediate form.
Descriptions of type E[1] and type F[2] have been published, but they are not well characterized, and are currently classified under type B.[3]
Genetics
Mutations in the
lysosomes (compartments that digest and recycle materials in the cell), and is required to metabolize the lipid sphingomyelin. If sphingomyelinase is absent or not functioning properly, sphingomyelin cannot be metabolized properly and is accumulated within the cell, eventually causing cell death and the malfunction of major organ systems.[citation needed
]
Diagnosis
Type A
Niemann–Pick type A, the most common type, occurs in infants and is characterized by
enlarged liver, failure to thrive, progressive deterioration of the nervous system and profound brain damage. Children affected by Niemann Pick Type A rarely live beyond 18 months. Niemann–Pick Type A occurs more frequently among individuals of Ashkenazi (eastern and central European) Jewish descent than in other ethnicities. The incidence within the Ashkenazi population is approximately 1 in 40,000 people. The incidence for other populations is 1 in 250,000 people.[citation needed
]
Type B
Niemann–Pick type B involves an enlarged liver and spleen (
platelets). The brain is not affected in type B and the disease often presents in the pre-teen years.[citation needed
]
Treatment
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References
- PMID 14246098.
- PMID 216805.
- ^ Online Mendelian Inheritance in Man (OMIM): Niemann–Pick Disease, Type B - 607616 Retrieved 2 February 2024.