Fabry Disease | Nucleotides

Angiotensin II receptor blockers (ARBs) are a class of antihypertensive medications that act on Angiotensin receptor I on vascular smooth muscles and adrenal glands, there by preventing the binding of Angiotensin II. This leads to a decrease in vasoconstriction and aldosterone production, which altogether results in reduced blood pressure.

ACE inhibitors are a class of medicines used in the treatment of hypertension. They block angiotensin converting enzyme and prevent angiotensin II production, thereby decrease blood pressure. Dry cough, angioedema, hypotension and hyperkalemia are common side effects of ACE inhibitors.

Friedreich’s ataxia is an autosomal recessive condition caused due to expanded GAA repeats in the FXN gene present on chromosome 9.

Gaucher disease is an autosomal recessive condition wherein there is decreased glucocerebrosidase levels. This results in the build up of glucocerebroside in the lysosomes of macrophages which in turn accumulates in several tissues, causing damage to it.

Albinism is a recessive genetic disorder caused by mutation in the genes of any enzyme or protein taking part in melanin production. This condition causes a decrease or absence of melanin pigment, resulting in decreased skin, hair and eye pigmentation which is manifested as white to gray hair, milky white skin and very light blue or translucent irises.

Von Hippel Lindau disease is an autosomal dominant genetic condition caused by mutation in the VHL gene found on chromosome number 3. This results in increased levels of HIF, platelet-derived and vascular endothelial growth factors, causing tumor development.

Tay-Sachs disease is a rare autosomal recessive condition that results from a mutation in HEX-A gene on chromosome 15 that leads to GM2 ganglioside build up within lysosomes in the neurons of CNS resulting in progressive symptoms of CNS degeneration including visual problems, hypotonia and seizures.

Fabry disease is a rare genetic disorder that affects the X chromosome. It is caused by mutation in the GLA gene resulting in decreased alpha galactosidase A enzyme or alpha-gal A, leading to the buildup of large glycosphingolipids like Globotriaosylceramide (GL3) in lysosomes.

Turner syndrome is a chromosomal disorder in females wherein there is either one fully or partially absent X chromosome. The common characteristics of Turner syndrome are short stature, streak ovaries, neck webbing, lymphedema, congenital heart and renal anomalies. Treatment includes growth hormone and sex hormone replacement therapy.

Wiskott-Aldrich syndrome is an immune system disorder which is inherited in an X-linked recessive way and it most often affects men. The standard triad of symptoms are microthrombocytopenia, repeated infections and eczema. The treatment is concentrated on controlling symptoms and the likely curative treatment now is hematopoietic stem cell transplantation.