Identification of a Novel GLA Mutation (L206 P) in a Patient with Fabry Disease

• Published in: Korean circulation journal Vol. 47; no. 2; pp. 278 - 281
• Main Authors: Kim, Ji-Hoon, Kim, Gee-Hee, Park, Hoon-Suk, Choi, Jin-A, Bae, Jung-Min, Cho, Uiju
• Format: Journal Article
• Language: English
• Published: Korea (South) The Korean Society of Cardiology 01.03.2017; 대한심장학회
• Subjects: Case Report; 내과학; Fabry disease; Hypertrophy cardiomyopathy; Galactosidase alpha mutation
• ISSN: 1738-5520; 1738-5555
• DOI: 10.4070/kcj.2016.0321

We report a new α-Galactosidase A (αGal-A) mutation in a 39-year-old Korean born, male Fabry disease patient. Fabry disease is a devastating, progressive inborn error of metabolism caused by X-linked genetic mutations. In this case, the first clinical symptom to occur was in childhood consisting of a burning pain originating in the extremities then radiating inwards to the limbs. This patient also stated to have ringing in his ears, angiokeratomas on his trunk, and cornea verticillata. He visited an outpatient cardiologist due to intermittent and atypical chest discomfort at the age of 39. Electrocardiographic and echocardiographic examination showed left ventricular hypertrophy. A physical examination revealed proteinuria without hematuria. The patient's plasma αGal-A activity was markedly lower than the mean value of the controls. After genetic counseling and obtaining written informed consent, we identified one hemizygous mutation in exon 4 of galactosidase alpha, c.617T>C (p.Leu206 Pro). He was eventually diagnosed as having Fabry disease.