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Pathway Description
Mabry Syndrome
Homo sapiens
Category:
Metabolite Pathway
Sub-Category:
Disease
Created: 2025-05-28
Last Updated: 2025-10-07
In Mabry syndrome (hyperphosphatasia with mental retardation syndrome), mutations in a gene responsible for GPI anchor maturation, PGAP2, leads to the production of incomplete or defective GPI anchors. As a result, proteins that normally require GPI anchors to attach to the cell membrane, including alkaline phosphatase, cannot be properly tethered and are instead released into the bloodstream. This causes persistently elevated blood levels of alkaline phosphatase, a key feature of the syndrome, and disrupts the normal function of other GPI-anchored proteins, contributing to the neurological and developmental symptoms characteristic of Mabry syndrome.
References
Mabry Syndrome References
essina, M., Manea, E., Cullup, T., Tuschl, K., & Batzios, S. (2022). Hyperphosphatasia with mental retardation syndrome 3: Cerebrospinal fluid abnormalities and correction with pyridoxine and Folinic acid. JIMD reports, 64(1), 42–52. https://doi.org/10.1002/jmd2.12347
Thompson, M. D., & Knaus, A. (2024). Rare Genetic Developmental Disabilities: Mabry Syndrome (MIM 239300) Index Cases and Glycophosphatidylinositol (GPI) Disorders. Genes, 15(5), 619. https://doi.org/10.3390/genes15050619
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