IllnessMorbus Niemann-Pick type A/B

NGS +

Niemann-Pick disease type A (severe early onset) and type B (later onset, milder manifestations than type A) are caused by mutations in the SMPD1 gene. SMPD1 mutations lead to acid sphingomyelinase deficiency, which results in decreased degradation of sphingomyelin. The resulting fatty deposits disrupt cellular processes, and the subsequent cell loss impairs the functions of the liver, spleen, brain, lungs and eyes in particular. In type A, hepatosplenomegaly is evident after three months, and respiratory failure may be an early cause of death. In addition, the neurological situation of patients deteriorates inexorably, and most children die before the age of three. In contrast, patients with type B can reach adulthood. The mode of inheritance is autosomal recessive. DNA sequence analysis allows detection of pathogenic SMPD1 variants in >95% of subjects. Neither duplications nor deletions of the SMPD1 gene have been described. Inconspicuous genetic findings do not provide absolutely certain exclusion of the suspected clinical diagnosis.

References: https://www.ncbi.nlm.nih.gov/books/NBK1370/

• ASMD
• Acid sphingomyelinase deficiency
• Alias: Niemann-Pick disease, type A/B (SMPD1)
• Niemann-Pick disease, intermediate, protracted neurovisceral, type A (SMPD1)
• Niemann-Pick disease, intermediate, visceral involvement + rapid progression, type B/E/F (SMPD1)
• Sphingomyelin lipidosis; Niemann-Pick disease, type A (SMPD1)
• Sphingomyelinase deficiency; Niemann-Pick disease, type A (SMPD1)