En grupp autosomala, recessiva sjukdomar med ansamling av lipider i skadlig mängd i bukorganen och det centrala nervsystemet. De kan bero på brister i enzymaktiviteter (sfingomyelinfosfodiesteras) eller fel i den intracellulära transporten, vilket leder till ansamling av sfingomyeliner och kolesterol. Det finns olika subtyper, baserade på kliniska och genetiska skillnader.
A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences.
Inga svenska synonymer finns.
Niemann Pick Diseases — Niemann-Pick Disease — Niemann Pick Disease — Acid Sphingomyelinase-Deficient Niemann-Pick Disease — Acid Sphingomyelinase Deficient Niemann Pick Disease — Acid Sphingomyelinase Deficiency — Deficiency, Acid Sphingomyelinase — Sphingomyelinase Deficiency, Acid — ASM-Deficient Niemann-Pick Disease — ASM Deficient Niemann Pick Disease — Disease, ASM-Deficient Niemann-Pick — Niemann-Pick Disease, ASM-Deficient — ASM Deficiency — ASM Deficiencies — Deficiency, ASM