Niemann-Pick disease A/B
Enzyme or protein defect
Acid sphingomyelinase
Accumulates or becomes deficient
Sphingomyelin
Key features
Hepatosplenomegaly, cherry-red macula, neurodegeneration (type A), foam cells
Management
Supportive; olipudase alfa for type B
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
Europe PMC · fetched just now · sorted by publication date
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1
Interstitial Lung Disease in Children: Rare Genetic Variants Beyond Surfactant Dysfunction.
Tabakçı SÖ, Akyan Soydaş ŞS, Tuğcu GD, Cinel G, Sağdıç AC, Özçelik U, Can Oksay S, Korkmaz Ç, Zirek F, Kekeç … · 2026-08-01
unreviewed -
2
Kidney Transplant in Niemann-Pick Disease Type B with Renal Involvement: A Case Report.
Zran N, Barbouch S, Aoun M, Sellami N, Kaaroud H, Chargui S, Abderrahim E. · 2026-07-01
unreviewed -
3
The Sphingolipid Balance and Endothelial Dysfunction in Lysosomal Storage Diseases: Shared Mechanisms in Gaucher, Niemann-Pick and Fabry Disease.
Nekrasova A, Kutsev S, Shestopalov A. · 2026-07-03
open access unreviewed -
4
Diagnostic and therapeutic applications of the glycan biomarker H3N2b in GM1 Gangliosidosis.
Kell P, Mishra S, D'Souza P, Tifft CJ, Dietzen DJ, Lasio LD, Carson JP, Hong X, Schiffmann R, Ledesma MD, Tay… · 2026-05-17
open access unreviewed -
5
Contradictory Effects on Hepatocytes in ASMD.
Sysoev M, Solovyov D, Shestopalov A, Kutsev S. · 2026-06-03
cited 1× open access unreviewed -
6
Improvement in quality of life and general functions in pediatric acid sphingomyelinase deficiency patients after receiving olipudase alfa: A single-center experience in Taiwan.
Pan YW, Yu WH, Tsai MC, Chou YY. · 2026-04-17
open access unreviewed -
7
Insights from the LysoNeo prospective cohort study to improve newborn screening of lysosomal diseases.
Tebani A, Guenet D, Torre S, Arion A, Héron B, Brassier A, Belmatoug N, Ausseil J, Bruel H, Lévéque C, Golden… · 2026-05-29
open access unreviewed -
8
Access to orphan drugs in adults with inherited metabolic diseases in Switzerland: a single-center retrospective cohort study.
Antoni G, Kumps C, Berger J, Barman-Aksözen J, Tran C. · 2026-05-18
open access unreviewed -
9
Living-donor liver transplantation in children with inherited metabolic and genetic cholestatic liver diseases: a single-center retrospective cohort study.
Liu H, Chen Z, Li W, Huxitaer H, Maimaiti G, Maimaijiang A, Jiayilawu Y, Habuding A, Xi R, Wang H, Song F. · 2026-04-30
open access unreviewed -
10
Zuclopenthixol inhibits residual activity of acid sphingomyelinase in Niemann pick disease type B: a case report with in vitro validation.
Schiller M, Steiner KM, Bonnet U, Gulbins E, Scherbaum N. · 2026-04-09
cited 1× open access unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.