Arylsulfatase A pseudodeficiency
From SNPedia
At a minimum, these SNPs are known to be related, and others may also be
| Max Magnitude | |
|---|---|
| rs6151429 | 3.3 |
| rs74315464 | 0 |
| rs74315466 | 0 |
| rs74315482 | 0 |
Although arylsulfatase A pseudodeficiency is characterized as a disease, about 1-2% of any population of clinically healthy people have two copies of "the" ARSA pseudodeficiency allele, identified by rs6151429. This does lead to low levels of arylsulfatase (ARSA).[PMID 1678251
]
Other mutations in the ARSA gene lead to metachromatic leukodystrophy in a variety of forms.
