Niemann-Pick Disease: Seven Questions about it
Acid sphingomyelinase deficiency is a rare hereditary disease caused by enzyme deficiency due to mutations in the SMPD1 gene. Decreased enzyme activity leads to accumulation of sphingomyelin in lysosomes. This disease is characterized by wide diversity of clinical manifestations: from infantile neur...
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"Paediatrician" Publishers LLC
2023-12-01
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| Series: | Вопросы современной педиатрии |
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| Online Access: | https://vsp.spr-journal.ru/jour/article/view/3357 |
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| author | Nato D. Vashakmadze Nataliya V. Zhurkova |
| author_facet | Nato D. Vashakmadze Nataliya V. Zhurkova |
| author_sort | Nato D. Vashakmadze |
| collection | DOAJ |
| description | Acid sphingomyelinase deficiency is a rare hereditary disease caused by enzyme deficiency due to mutations in the SMPD1 gene. Decreased enzyme activity leads to accumulation of sphingomyelin in lysosomes. This disease is characterized by wide diversity of clinical manifestations: from infantile neurovisceral form (Niemann-Pick disease type A) with severe rapidly progressive neurodegeneration to chronic visceral form (Niemann-Pick disease type B) with almost no central nervous system involvement. There is also intermediate phenotype: chronic neurovisceral form (Niemann-Pick disease type A/B) that includes manifestations two other forms, both visceral and neurological. The disease course is most commonly progressive and multi-system due to sphingomyelin accumulation in cells of the monocyte-macrophage system, as well as in other cells such as hepatocytes. |
| format | Article |
| id | doaj-art-3ed8cdc1e8db4e0180726f5aeb77b2db |
| institution | DOAJ |
| issn | 1682-5527 1682-5535 |
| language | English |
| publishDate | 2023-12-01 |
| publisher | "Paediatrician" Publishers LLC |
| record_format | Article |
| series | Вопросы современной педиатрии |
| spelling | doaj-art-3ed8cdc1e8db4e0180726f5aeb77b2db2025-08-20T03:21:55Zeng"Paediatrician" Publishers LLCВопросы современной педиатрии1682-55271682-55352023-12-0122657257610.15690/vsp.v22i6.27022152Niemann-Pick Disease: Seven Questions about itNato D. Vashakmadze0Nataliya V. Zhurkova1Research Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical UniversityResearch Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of SurgeryAcid sphingomyelinase deficiency is a rare hereditary disease caused by enzyme deficiency due to mutations in the SMPD1 gene. Decreased enzyme activity leads to accumulation of sphingomyelin in lysosomes. This disease is characterized by wide diversity of clinical manifestations: from infantile neurovisceral form (Niemann-Pick disease type A) with severe rapidly progressive neurodegeneration to chronic visceral form (Niemann-Pick disease type B) with almost no central nervous system involvement. There is also intermediate phenotype: chronic neurovisceral form (Niemann-Pick disease type A/B) that includes manifestations two other forms, both visceral and neurological. The disease course is most commonly progressive and multi-system due to sphingomyelin accumulation in cells of the monocyte-macrophage system, as well as in other cells such as hepatocytes.https://vsp.spr-journal.ru/jour/article/view/3357niemann-pick diseasetypes a and bacid sphingomyelinase deficiencylysosomal storage diseases |
| spellingShingle | Nato D. Vashakmadze Nataliya V. Zhurkova Niemann-Pick Disease: Seven Questions about it Вопросы современной педиатрии niemann-pick disease types a and b acid sphingomyelinase deficiency lysosomal storage diseases |
| title | Niemann-Pick Disease: Seven Questions about it |
| title_full | Niemann-Pick Disease: Seven Questions about it |
| title_fullStr | Niemann-Pick Disease: Seven Questions about it |
| title_full_unstemmed | Niemann-Pick Disease: Seven Questions about it |
| title_short | Niemann-Pick Disease: Seven Questions about it |
| title_sort | niemann pick disease seven questions about it |
| topic | niemann-pick disease types a and b acid sphingomyelinase deficiency lysosomal storage diseases |
| url | https://vsp.spr-journal.ru/jour/article/view/3357 |
| work_keys_str_mv | AT natodvashakmadze niemannpickdiseasesevenquestionsaboutit AT nataliyavzhurkova niemannpickdiseasesevenquestionsaboutit |