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unreviewed

Acid sphingomyelinase (SMPD1)

1 reactions · 1 pathways

Clinical / pharmacological. Niemann-Pick disease types A and B

What it does, reaction by reaction

1 reactions

Sphingolipid Degradation (Lysosomal) Lipid Metabolism · Lysosome

step 1 Irreversible/directional

Sphingomyelin + H2O -> ceramide + phosphocholine

Converts Sphingomyelin H2O into Ceramide Phosphocholine

› Notes

Deficiency causes Niemann-Pick disease types A/B (cherry-red macula, hepatosplenomegaly, foam cells).

Showing all 1 reactions.

What accelerates and inhibits it

Regulation is pathway-specific, so each context is listed separately

0 entries

No regulation recorded for this enzyme in the source documents.

Recent literature

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Europe PMC · from cache · sorted by publication date

  1. 1
    Non-immune hydrops fetalis (NIHF): diagnostic evaluation and lessons learned from a case series.

    Al Hassan J, Yared G, El Hajjar C, Dahrouj M, Massaad C, El Moghrabi A, Ghazal K. · 2026-06-03

    open access unreviewed
  2. 2
    SMPD1 modulates malignant progress of osteosarcoma through ferroptosis pathway.

    Guo C, Liao K, Chen G, Xu K, Yang J, Zhang J, Luo X, Zhang F, Cheng C, Lv XB, Zhang Z. · 2026-05-09

    unreviewed
  3. 3
    A challenging case of ASMD (acid sphingomyelinase deficiency): A severe interstitial lung disorder in an asplenic patient.

    Guimas A, Martins E. · 2026-07-18

    unreviewed
  4. 4
    Acid sphingomyelinase deficiency: Phenotypic, biochemical, and molecular heterogeneity in a series of 47 Iraqi patients from a single center.

    Farhan R, Al-Tai M, Ahmed IA, Kareem A, Baheer S, Sadik BM, Jafar MM, Alothman MS. · 2026-06-16

    open access unreviewed
  5. 5
    Isoginkgetin stabilizes atherosclerotic plaques by targeting NR4A2 to modulate the PPAR signaling pathway and reprogram ceramide metabolism, thereby inhibiting vascular smooth muscle cell phenotypic transformation.

    Wei D, Zhong Z, Li H, Qi J, Liu Y, Cao H, Ma Y, Li Z, Yang G, Jiang Y, Zhang Z. · 2026-06-10

    unreviewed
  6. 6
    Targeting CD44 reverses sphingomyelin-induced oligodendrocyte maturation arrest in acid sphingomyelinase deficiency.

    Guerrero-Valero M, Melgarejo E, Marchena MA, Fernández-Gómez B, Mulero-Franco J, de Castro F, Schuchman EH, L… · 2026-08-12

    unreviewed
  7. 7
    ASM-Ceramide Axis Modulation Is Associated With TSLP Release and Epithelial Barrier Dysfunction in an In Vitro Type 2 Inflammation Model Relevant to Pediatric Rhinitis.

    Liu Q, Jing W, Chang X, Liu S. · 2026-08-03

    unreviewed
  8. 8
    Avian pathogenic Escherichia coli virulence protein Hcp2a induces incomplete autophagy in chicken HD11 cells.

    Tian Y, Zhang Y, Lu L, Wang S, Dai L, Wang H, Nawaz S, Sun J, Shao Y, Wang Z, Tu J, Song X. · 2026-04-28

    open access unreviewed
  9. 9
    Identification of 19 Pathogenic Variants in a Clinically Heterogeneous Cohort With Suspected Inborn Errors of Metabolism.

    Mansoor S, Abid S, Imran M, Malik MI, Ali Q, Hussain S, Ali HA, Masood Y, Choudhry S, Qamar R, Azam M. · 2026-04-13

    unreviewed
  10. 10
    Potential Mechanisms of Platelet Dysfunction and Bleeding in Acid Sphingomyelinase Deficiency.

    Sysoev M, Solovyov D, Shestopalov A, Kutsev S. · 2026-07-26

    unreviewed

External claims. These come from an index outside this database and are not checked against it. Treat them as leads.