Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The alpha-galactosidase A, an enzyme to degrade ceramid into removable compounds, is found in lysosoms. Accumulation of not digestable metabolites results in Fabry disease.
The prevalance of mutations is from 0,2 per 100.000 in Netherlands up to 0,9 in Australia.
The GLA gene is about 10kb in size. It is located on X-chromosom (Xq22.1). Mutation relevant for Fabry's disease can be fount on all of the 7 exons.
Hemizygous male patients develop the full blown disease females that are heterozygous develop only few symptomes. Clincal manifestation starts in early adult age. Some patients develop end stage renal disease.
The enzyme is glycosilated. It forms a homodimer. The different types known so far differ in there extend of glycosilation. The enzyme has an important function in cell membrane turn over. It is located in lysosomes degradates here glycosphingolipids. If not degredated these substances accumulate in many organs to result in dysfunction. This takes place in epithelial cells, in glomeruli and tubuli of the kidney, in heart muscel cells, in cells of the ganglions of the peripheral nervous system and in the cornea.
Patients where biochemical data and family history is suspect for Fabry's diesease.
The verification of a mutation is equivalent to a strong confirmation of the diagnosis. Often new mutations will be found. There is a correlation between mutation and clinical picture. The therpy is available.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Genomic sequencing of the entire coding region |
| Turnaround | 20 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Multiplex Ligation-Dependent Probe Amplification |
| Turnaround | 20 days | |
| Specimen type | genomic DNA |
| 1. |
Grünfeld JP et al. (2002) Anderson-Fabry disease: its place among other genetic causes of renal disease. 
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| 2. |
Pastores GM et al. (2002) Biochemical and molecular genetic basis of Fabry disease.
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| 3. |
Branton M et al. (2002) Natural history and treatment of renal involvement in Fabry disease.
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| 4. |
Orphanet article Orphanet ID 122153
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| 5. |
NCBI article NCBI 2717
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| 6. |
OMIM.ORG article Omim 300644
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| 7. |
Wikipedia article Wikipedia EN (Fabry_disease)
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