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Mucopolysaccharidosis (MPS) are a group of diseases classified as inborn error of metabolism caused by deficiency of lysosomal enzymes needed in the degradation of glycosaminoglycans (GAGs). They are also knownas Lysosomal Storage Disease. The MPS’S diseases are hereditary, and depending on the sub-type, it can vary their inheritance pattern, symptoms and severity.

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Fabry disease (FD) is a genetic disorder related to mutations in the GAL gene on chromosome X, locus Xq22.1 with a pattern of X-linked recessive inheritance. This fact indicates the gravity differentiated by gender, making the male patients affected with the classic form of FD more seriously, with a reduced survival, hardly beyond the sixth decade of life. (1-2).  Diagnosis The diagnosis can be done by measuring the enzyme alpha-galactosidase or alpha-GAL (blood tests that measure the activity of the enzyme alpha-GAL) and mutation or genetic analysis (blood collection for DNA analysis). In men, this enzyme will almost always be low and in most cases the enzyme assay in leukocytes is enough in order to confirm the diagnosis. In women, the enzyme test can be normal, so it is necessary to perform the molecular test for the detection of mutations in the gene Gal to confirm the diagnosis. After an evaluation of the natural history of the FD established and suspected  presence of signs and symptoms, diagnostic confirmation by additional tests may be done as follows:

In male suspected patients:
Analysis of the enzyme alpha-Galactosidase A in the plasma
Analysis of the leukocyte enzyme alpha-Galactosidase A; more sensitive than the analysis of plasma.
Analysis of mutation in the alpha Gal gene, in men, is rarely needed. This test is restricted to  atypical cases where the enzymatic assessment is doubtful.

In female suspected patients:
Analysis of mutation in the alpha Gal; in women,  the enzyme assay (analysis of Alpha-Galactosidase A) may be normal, so the molecular test is considered mandatory to confirm the diagnosis, except in cases where the woman is  heterozygous, and the father is a known carrier of FD.


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Niemann-Pick disease (NPD) is a group of genetic diseases, autosomal recessive with variable systemic involvement, associated with splenomegaly and neurological involvement by sphingomyelin storage. NPD disease is classified into 3 sub-types: types A, B and C. Niemann-Pick type C (NP-C) is caused by the accumulation of lipids (fat molecules, such as cholesterol and gangliosites) by mutations in the NPC1 gene or NPC 2, located on chromosome 18. The systemic involvement of the liver, spleen or lung is present in over 85% of patients preceding the development of neurological symptoms. NPD type C is a fatal inherited trait and progressive symptoms leading to severe neurologic involvement and potentially fatal.

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