Orphanet J Rare Dis. 2026 Jan 20;21(1):21. doi: 10.1186/s13023-025-04168-3.ABSTRACTBACKGROUND: Fabry disease (FD) is a multisystemic, progressive, X-linked genetic disorder caused by dysfunction of the enzyme α-galactosidase A. Symptoms commonly present in childhood in classic patients. Prior studie
No abstractGenet Med Open. 2025 Dec 2;4:103481. doi: 10.1016/j.gimo.2025.103481. eCollection 2026.NO ABSTRACTPMID:41551006 | PMC:PMC12809085 | DOI:10.1016/j.gimo.2025.103481
No abstractJAAD Case Rep. 2025 Oct 11;66:134-136. doi: 10.1016/j.jdcr.2025.09.040. eCollection 2025 Dec.NO ABSTRACTPMID:41550309 | PMC:PMC12805242 | DOI:10.1016/j.jdcr.2025.09.040
NPJ Genom Med. 2026 Jan 16;11(1):6. doi: 10.1038/s41525-025-00540-1.ABSTRACTFabry disease (FD) is a rare X-linked lysosomal storage disorder caused by variants in the alpha-galactosidase A gene (GLA). Cardiac complications are a major cause of mortality, but the large number of variants complicate e
J Pathol Transl Med. 2026 Jan;60(1):124-128. doi: 10.4132/jptm.2025.12.10. Epub 2026 Jan 14.ABSTRACTDrug-induced phospholipidosis (DIP) is characterized by intracellular accumulation of phospholipids with lamellar body formation secondary to drug-altered lipid metabolism, which can trigger inflammat
Sci Rep. 2026 Jan 12. doi: 10.1038/s41598-026-35466-w. Online ahead of print.ABSTRACTFabry disease (FD) is a rare lysosomal storage disorder caused by mutations in the GLA gene, resulting in globotriaosylceramide accumulation. Kidney involvement (Fabry nephropathy) significantly contributes to morbi
Nat Commun. 2026 Jan 10. doi: 10.1038/s41467-025-68256-5. Online ahead of print.ABSTRACTIn Fabry disease (FD, OMIM #301500), a rare lysosomal storage disorder, the glucosylceramide synthase inhibitor lucerastat acts as substrate reduction therapy. The Phase 3, prospective, double-blind, placebo-cont
Mol Genet Metab. 2025 Dec 31;147(3):109709. doi: 10.1016/j.ymgme.2025.109709. Online ahead of print.ABSTRACTINTRODUCTION: Fabry disease (FD), also known as Anderson-Fabry disease, is a heterogeneous, multisystem lysosomal storage disorder with an X-linked inheritance pattern. Its estimated prevalenc
Int J Mol Sci. 2025 Dec 26;27(1):269. doi: 10.3390/ijms27010269.ABSTRACTFabry disease (FD) is an X-linked lysosomal disorder caused by GLA mutations, typically associated with glycosphingolipid accumulation and a wide phenotypic spectrum. The p.R112H variant is generally linked to a non-classic pred
Cells. 2025 Dec 19;15(1):6. doi: 10.3390/cells15010006.ABSTRACTLysosomal storage disorders (LSDs) are a group of rare inherited diseases caused by mutations in the genes encoding the proteins involved in normal lysosomal functions, leading to an accumulation of undegraded substrates within lysosomes
Front Pharmacol. 2025 Dec 18;16:1702682. doi: 10.3389/fphar.2025.1702682. eCollection 2025.ABSTRACTCurrent treatments, including enzyme replacement and pharmacological chaperones, have improved disease outcomes but often fail to fully prevent progression or alleviate persistent symptoms, underscorin
ACS Omega. 2025 Dec 15;10(51):63072-63083. doi: 10.1021/acsomega.5c09235. eCollection 2025 Dec 30.ABSTRACTBackground: Lyso-Gb1 and Lyso-Gb3 are key biomarkers for Gaucher type 1 and Fabry diseases, offering high diagnostic accuracy and utility in disease monitoring. However, conventional sample prep
Mol Genet Metab. 2026 Jan;147(1):109710. doi: 10.1016/j.ymgme.2025.109710. Epub 2025 Dec 25.ABSTRACTFabry disease is a rare, X-linked lysosomal storage disorder that often leads to progressive kidney dysfunction. Despite carrying the same pathogenic GLA variant, patients exhibit considerable variabi
J Exp Med. 2026 Feb 2;223(2):e20251871. doi: 10.1084/jem.20251871. Epub 2025 Dec 30.ABSTRACTOlfactory nerve bundles exit the brain through the cribriform plate (CP) with a rich perineural microenvironment (cpPME). This microenvironment facilitates interactions between cerebrospinal fluid, blood vess
Front Neurol. 2025 Dec 15;16:1689057. doi: 10.3389/fneur.2025.1689057. eCollection 2025.ABSTRACTBACKGROUND: Fabry disease (FD) is a lysosomal storage disorder that causes glycosphingolipid deposition in the vascular endothelium. Early neurovascular involvement is difficult to detect because conventi
Ther Adv Rare Dis. 2025 Dec 23;6:26330040251405830. doi: 10.1177/26330040251405830. eCollection 2025 Jan-Dec.ABSTRACTThis review explores enzyme replacement therapies (ERTs) for lysosomal storage diseases (LSDs), focusing on disease characteristics, mechanisms of action, clinical benefits, limitatio
Int J Mol Sci. 2025 Dec 17;26(24):12125. doi: 10.3390/ijms262412125.ABSTRACTFabry disease (FD) is an X-linked genetic disease caused by deficient α galactosidase A activity, leading to a lysosomal storage disorder of globotriaosylceramide, causing organ damages. There are two most common clinical ma
Biomedicines. 2025 Dec 12;13(12):3062. doi: 10.3390/biomedicines13123062.ABSTRACTAmong cardiomyopathies, the hypertrophic phenotype is the most common, and hypertrophic cardiomyopathy (HCM) phenocopies represent a heterogeneous group of conditions. They are defined by a left ventricular wall thickne
Biomedicines. 2025 Dec 5;13(12):2989. doi: 10.3390/biomedicines13122989.ABSTRACTBackground: Fabry disease is a rare X-linked lysosomal storage disorder associated with progressive renal, cardiac, and neurological complications. Enzyme replacement therapy (ERT) has been the standard treatment for mor
Mol Ther. 2025 Dec 24:S1525-0016(25)01062-7. doi: 10.1016/j.ymthe.2025.12.039. Online ahead of print.ABSTRACTFabry disease is a rare X-linked lysosomal storage disorder caused by pathological mutations in the GLA gene which encodes α-galactosidase A (α-Gal A). The deficiency of α-Gal A leads to the
Brain Sci. 2025 Nov 21;15(12):1254. doi: 10.3390/brainsci15121254.ABSTRACTSkin biopsy is an affordable, minimally invasive technique that provides direct access to peripheral neural structures for in vivo evaluation of cutaneous nerve pathology, with relevance to both peripheral and central nervous
J Lipid Res. 2025 Dec 20;67(1):100967. doi: 10.1016/j.jlr.2025.100967. Online ahead of print.ABSTRACTA significant number of inherited neurodegenerative metabolic diseases (NMDs) arise from altered lipid metabolism, including impaired degradation of sphingolipids and dysfunction in organelle-related
Neurol Res Pract. 2025 Dec 16;7(1):98. doi: 10.1186/s42466-025-00440-w.ABSTRACTBACKGROUND: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A (GLA) gene, leading to an increased risk for white matter lesion (WML), stroke and cerebral microbleeds
Cureus. 2025 Nov 13;17(11):e96790. doi: 10.7759/cureus.96790. eCollection 2025 Nov.ABSTRACTRenal phospholipidosis is a rare condition in which excessive phospholipids accumulate in the lysosomes of the renal cells, leading to renal dysfunction. Historically, phospholipidosis has been described in th
