Duangrurdee WattanasirichaigoonJisnuson SvastiJames R. Ketudat CairnsKanchana TangnararatchakitAnannit VisudtibhanSiriporn KeeratichamroenLukana NgiwsaraPongsakdi KhowsathitTassanee OnkoksoongApatsa LekskulDowruang MongkolsiriChanchai JariengprasertCheamchit ThawilSuwimol RuencharoenMahidol UniversityChulabhorn Research InstituteSuranaree University of TechnologySukhothai HospitalFaculty of Medicine, Ramathibodi Hospital, Mahidol University2018-08-202018-08-202006-10-11Journal of the Medical Association of Thailand. Vol.89, No.9 (2006), 1528-153501252208012522082-s2.0-33749444100https://repository.li.mahidol.ac.th/handle/123456789/23550Objective: To characterize clinical manifestations, biochemical changes, mutation of alpha-Galactosidase (□-Gal A) gene A (GLA), and functional capability of mutant protein. Material and Method: Seventeen subjects from a family with a newly diagnosed patient with Fabry disease were enrolled in the present study. In each individual, clinical history, physical examination, leukocyte enzyme activity of □-Gal A, and mutation analysis were performed. Those with a mutation were further investigated by ophthalmological and audiological evaluations, electrocardiography, echocardiogram, urinalysis, and blood tests to determine renal insufficiency. Expression study of the mutant protein was performed using a Pichia pastoris expression system. Results: Four affected males and five symptomatic female carriers were identified. Clinical manifestations included severe neuropathic pain, acroparesthesia, hypo-/hyper-hidrosis, frequent syncope, ischemic stroke, cardiac hypertrophy, corneal dystrophy and cart-wheel cataract, high frequency sensorineural hearing loss, periorbital edema and subcutaneous edema over hands and interphalangeal joints. None had angiokeratoma or renal symptoms. The authors identified a novel mutation, p.L106R, in the GLA gene. Recombinant expression of the mutant protein gave little or no enzyme activity compared to the normal protein. Conclusion: There were intrafamilial clinical variabilities, but consistent findings of the absence of angiokeratoma and renal symptoms, which could represent a unique feature of this particular mutation.Mahidol UniversityMedicineArticleSCOPUS