Korean Circ J.  2017 Mar;47(2):278-281. 10.4070/kcj.2016.0321.

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

• Kim JH
• Kim GH
• Park HS
• Choi JA
• Bae JM
• Cho U

• KMID: 2377470
• DOI: http://doi.org/10.4070/kcj.2016.0321

Abstract

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.

Keyword

Galactosidase alpha mutation; Fabry disease; Hypertrophy cardiomyopathy

MeSH Terms

Adult
Angiokeratoma
Burns
Cornea
Ear
Echocardiography
Electrocardiography
Exons
Extremities
Fabry Disease*
Galactosidases
Genetic Counseling
Hematuria
Humans
Hypertrophy, Left Ventricular
Informed Consent
Male
Metabolism
Outpatients
Physical Examination
Plasma
Proteinuria
Thorax
Galactosidases

Figure

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  Fig. 1 At the initial outpatient visit, the patient's electrocardiogram (A) demonstrated marked left ventricular hypertrophy and an inverted T wave. The cardiac echocardiography (B) showed left ventricular hypertrophy.

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  Fig. 2 The patient showed the renal pathology. (A) Glomeruli examined by electron microscopy show characteristic round, whorled, laminated electrondense structures filling the podocyte cytoplasm and a few endothelial cells. (B) The characteristic lipid inclusions with whorled architecture pack the tubular epithelial cytoplasm upon electron microscopy.

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