Fabry disease (FD) is an X-linked lysosomal storage disorder characterized by alpha-galactosidase A deficiency, resulting in globotriaosylceramide accumulation and diverse clinical manifestations. We report a case of a 22-year-old male presenting with cochleovestibular disorders as the initial FD manifestation, alongside a literature review. Diagnostic evaluation revealed reduced alpha-galactosidase A activity, confirming FD. Cochleovestibular involvement, although underexplored, significantly affects FD patients, often presenting with sudden deafness or sensorineural hearing loss. Prompt diagnosis and enzyme replacement therapy are crucial for managing FD. Otolaryngologists play a key role in early detection and intervention. This case underscores the importance of considering FD in cases of hearing loss, tinnitus, or vertigo, emphasizing the need for heightened awareness among healthcare providers.

暂无摘要。

暂无摘要。

A review was conducted to evaluate interventional therapy for Fabry disease. Fabry disease is a multisystemic X-linked storage disorder that affects the entire body and needs to be treated at an early age. The search was conducted using keywords such as \"Fabry disease\" and \"Management\" to review the databases. Seven studies were chosen from the 90 studies, and it was discovered that migalastat and enzyme replacement medication were successful in treating the condition, whereas agalsidase beta failed to have a positive effect on the patient. However, this analysis produced ambiguous conclusions. As only a small number of studies were included in the analysis, additional investigations and evaluations based on randomized controlled trials and case studies are required to determine potential drug-related outcomes. There is a need for future therapeutic research to cure genetically affected illnesses and diseases such as Fabry disease.

Fabry disease, a well-known X-linked disorder, can present as an elusive late-stage disease in women with challenging limitations to management. Risk stratification of patient populations for genetic testing, early detection, and advances in affordable clinical treatment are on-going. We present a case to further demonstrate the need for continued research. Our case involved advanced complications, including worsening diastolic heart failure and conduction disorders ranging from supraventricular tachycardia to severe heart block. The patient received goal-directed medical therapy as tolerated for her heart failure and ultimately needed a dual-chamber pacemaker with a defibrillator.

UNASSIGNED: This article analyzes the data of four families with mutations of the GLA (galactosidase) gene with a special focus on the clinical presentation, diagnosis, and interdisciplinary clinical management of Fabry disease (FD) and enzyme replacement therapy (ERT) treatment, and has the aim to assess more accurate prevention and treatment strategy.
UNASSIGNED: The MSSI (Mainz Severity Score Index) scale was used to evaluate the clinical data of five children diagnosed in our hospital, and the genotypes of all the patients with FD were collected. Two of the male children started ERT. We summarize the clinical effect and the evaluation of globotriaosylsphingosine (Lyso-GL-3) before and after treatment.
UNASSIGNED: Five children were confirmed as having FD using the family histories, clinical manifestations, α-galactosidase A (a-Gal A) activity, and genetic test results. Two children used agalsidase α every 2 weeks regularly, after ERT. Their clinical symptoms improved, their pain intensity was significantly relieved, and upon re-examination their Lyso-GL-3 decreased conspicuously and no serious adverse reactions occurred. We report for the first time four families with children with FD. The youngest child was only 1 year old. The four families included one girl which is rare in X-linked lysosomal storage diseases.
UNASSIGNED: The clinical phenotype of FD in childhood is nonspecific, and the misdiagnosis rate is high. Most children with FD have a delayed diagnosis, and their organs are often seriously damaged in adulthood. Pediatricians must improve their diagnosis and treatment awareness, screen high-risk groups, and emphasize multidisciplinary cooperation and holistic lifestyle management after diagnosis. The diagnosis of the proband is also conducive to the mining of other cases of FD families and has important guiding significance for prenatal diagnosis.

The relationships among small fiber neuropathy, age, sex and pain intensity in the context of Fabry\'s disease remain unclear. We aim to study the correlations of small fiber neuropathy, age, sex and pain intensity in Fabry patients.
We evaluated C-fiber function by recording the withdrawal latencies to painful heat stimulus (WLPHS) when each subject\'s right hand was immersed in a 50 °C hot water bath and correlated this parameter with the patient\'s perceived pain intensity and quality of life assessed by the short-form McGill Pain Questionnaire (SF-MPQ) in a large Taiwanese Fabry family and normal controls.
Male Fabry patients showed a significantly increased WLPHS compared to that of normal controls. Furthermore, male Fabry patients showed a positive correlation of increased WLPHS with patient age. The SF-MPQ of male Fabry patients showed a bell distribution with age, and maximal pain scores were detected between the ages of the early 20s and late 40s. In contrast, the female Fabry patients had variable associations of WLPHS and SF-MPQ with age.
We proposed a probable mechanism by which globotriaosylceramide (Gb3) or globotriaosylsphingosine (lyso-Gb3) is gradually deposited into the small nerve bundles with increasing age, which induces continuous damage and produces injury discharges to sustain neuropathic pain in young male Fabry patients. However, once the small fibers are reduced to a certain degree, they no longer produce enough noxious discharges to sustain neuropathic pains in older male Fabry patients, which leads these patients to have lower SF-MPQ scores. In contrast, female Fabry patients had less and variable small fiber damage, pain intensity and clinical signs/symptoms.

α-Galactosidases are exoglycosidases that are active on galactose-containing side chains in oligosaccharides, polysaccharides, glycolipids, and glycoproteins. α-Galactosidases are gaining increased interest in human medicine, especially in the enzyme replacement therapy for Fabry\'s disease. α-Galactosidases with regioselectivity toward α-1,3-linked galactose find application in xenotransplantation and blood group transformation. The use of α-galactosidases as a therapeutic agent in alleviating the postprandial symptoms of irritable bowel syndrome is much acclaimed. The excellent therapeutic applications of α-galactosidases have led to an upwelling of worldwide research interventions to identify novel α-galactosidases with improved catalytic efficiency. In addition to these therapeutic applications, α-galactosidases also have interesting applications in the industrial sectors like food, feed, probiotics, sugar, and paper pulp. The current review focuses on the diverse therapeutic applications of α-galactosidases and their prospects.

Identification of 19 molecular species of globotriaosylceramides (Gb3) in extracts from a Fabry\'s plasma patient and a healthy control was performed by High-Performance Thin-Layer Chromatography (HPTLC)-densitometry and online coupling to Mass Spectrometry (MS). Separation was carried out on LiChrospher plates using Automated Multiple Development (AMD). Densitometry was performed on twin plates by combining detection in the visible at 550 nm, through previous on-plate orcinol derivatization, and by Ultraviolet 190 nm, using a non-impregnated plate. The latter was directly coupled to an ion-trap mass spectrometer through an automated elution-based interface. Gb3 molecular species, which were identified by HPTLC- Electrospray Mass Spectrometry (+)-MS and confirmed by MS/MS or HPTLC-Atmospheric Pressure Chemical Ionization Mass Spectrometry (+)-MS, are: five isoforms of saturated Gb3; seven isoforms of methylated Gb3; and seven species with two additional double bonds. Twelve of these species were previously reported as biomarkers of Fabry\'s lysosomal disorder using a Liquid Chromatography-MS-based method, and the other seven are structurally similar, closely related to them. Saturated Gb3 isoforms migrated on LiChrospher plate in one of the separated peaks corresponding to the migration zone of ceramide trihexosides standard. Instead, methylated and unsaturated Gb3 species co-migrated with sphingomyelin species. Ion intensity ESI-MS profiles show that saturated Gb3 species in Fabry\'s plasma were in higher concentration than in control sample. Before applying the Thin-Layer Chromatography (TLC)-MS interface on HPTLC separated peaks, its positioning precision was first studied using ceramide tri-hexosides as model compound. This provided information on Gb3 peak broadening and splitting during its migration.

Fabry disease (FD) is an X-linked recessive lysosomal storage disease caused by a mutation of the galactosidase alpha (GLA) gene, leading to deficiency of α-galactosidase A (alpha-Gal A). This deficiency results in a progressive, multiorgan accumulation of glycolipids, most notably globotriaosylceramide (Gb3), leading to multiorgan failure and subsequently premature death. Gb3 accumulation in the podocytes, epithelial, and mesangial cells of the glomeruli results in progressive renal disease and eventually renal failure and hemodialysis (HD). There are two types of FD: early-onset classical type 1 and late-onset type 2. Although nearly a thousand mutations of the GLA gene have been identified, the majority of them are of unknown significance. Herein we report the case of a 25-year-old Caucasian male with no significant medical history who presented with peripheral neuropathy and end-stage renal failure, requiring HD. He was diagnosed with FD based on the electron microscopy findings of renal biopsy and severely reduced alpha-Gal A activity (<0.4 nmol/mL/hour). A novel mutation of c.281G>T; p.Cys94Phe was identified. On discharge from our facility, he was referred to a renal transplant center and genetic counseling.