Annals of the South African Museum. Annale van die Suid-Afrikaanse Museum.

v.18:pt.1-4 (1921)

Annals of the South African Museum. Annale van die Suid-Afrikaanse Museum.

v.13:pt.1-8 (1913-1923)

Annals of the South African Museum. Annale van die Suid-Afrikaanse Museum.

v.7:pt.1-6 (1908-1913)

Annals of the South African Museum. Annale van die Suid-Afrikaanse Museum.

v.15:pt.1-6 (1914-1916)

Annals of the South African Museum. Annale van die Suid-Afrikaanse Museum.

v.10:pt.1-12 (1911-1914)

Screening for Fabry Disease in Left Ventricular Hypertrophy: Documentation of a Novel Mutation

AbstractBackground:Fabry disease is a lysosomal storage disease caused by enzyme α-galactosidase A deficiency as a result of mutations in the GLA gene. Cardiac involvement is characterized by progressive left ventricular hypertrophy.Objective:To estimate the prevalence of Fabry disease in a population with left ventricular hypertrophy.Methods:The patients were assessed for the presence of left ventricular hypertrophy defined as a left ventricular mass index ≥ 96 g/m2 for women or ≥ 116 g/m2 for men. Severe aortic stenosis and arterial hypertension with mild left ventricular hypertrophy were exclusion criteria. All patients included were assessed for enzyme α-galactosidase A activity using dry spot testing. Genetic study was performed whenever the enzyme activity was decreased.Results:A total of 47 patients with a mean left ventricular mass index of 141.1 g/m2 (± 28.5; 99.2 to 228.5 g/m2] were included. Most of the patients were females (51.1%). Nine (19.1%) showed decreased α-galactosidase A activity, but only one positive genetic test − [GLA] c.785G>T; p.W262L (exon 5), a mutation not previously described in the literature. This clinical investigation was able to establish the association between the mutation and the clinical presentation.Conclusion:In a population of patients with left ventricular hypertrophy, we documented a Fabry disease prevalence of 2.1%. This novel case was defined in the sequence of a mutation of unknown meaning in the GLA gene with further pathogenicity study. Thus, this study permitted the definition of a novel causal mutation for Fabry disease - [GLA] c.785G>T; p.W262L (exon 5).

Special bulletin / Smithsonian Institution, United States National Museum.

no. 2 (1895)

Bulletin of the British Museum (Natural History).

v.17 (1965-1966)

Bulletin of the British Museum (Natural History).

v.37 (1979-1980)

Bulletin of the British Museum (Natural History).

v.50 (1986)

Bulletin of the Natural History Museum.

v.27:no.1 (1997:June)

Bulletin of the British Museum (Natural History).

v.15 (1963-1965)

Bulletin of the British Museum (Natural History).

v.1 (1953-1959)

Bulletin of the Natural History Museum.

v.23:no.1 (1993:June)

Bulletin of the Natural History Museum.

v.31:no.1 (2001:June)