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The main members of this group are Niemann–Pick disease, Fabry disease, Krabbe disease, Gaucher disease, Tay–Sachs disease and metachromatic leukodystrophy. They are generally inherited in an autosomal recessive fashion, but notably Fabry disease is X-linked recessive .
Many lipid storage disorders can be classified into the subgroup of sphingolipidoses, as they relate to sphingolipid metabolism. Members of this group include Niemann-Pick disease, Fabry disease, Krabbe disease, Gaucher disease, Tay–Sachs disease, metachromatic leukodystrophy, multiple sulfatase deficiency, and Farber disease.
It is the first medication approved by the FDA to treat Niemann-Pick Disease, Type C. [17] Levacetylleucine (Aqneursa) was approved for medical use in the United States in September 2024. [18] Levacetylleucine is the second medication approved by the FDA for the treatment of Niemann-Pick disease type C. [18]
A multinational clinical trial investigating N-Acetyl-L-Leucine for the treatment of GM2 Gangliosidosis (Tay-Sachs and Sandhoff) began in 2019 [14] Recruitment is ongoing. IntraBio is also conducting parallel clinical trials with N-Acetyl-L-Leucine for the treatment of Niemann-Pick disease type C [15] and Ataxia-Telangiectasia. [16]
Levacetylleucine, sold under the brand name Aqneursa, is a medication used for the treatment of neurological manifestations of Niemann-Pick disease type C. [1] [2] Levacetylleucine is a modified version of the amino acid leucine (N-Acetyl-L-Leucine). [1] It is the L form of acetylleucine. It is taken by mouth. [1]
Niemann–Pick type C (NPC) (colloquially, "Childhood Alzheimer's" [2]) is a lysosomal storage disease associated with mutations in NPC1 and NPC2 genes. Niemann–Pick type C affects an estimated 1:150,000 people. [3] Approximately 50% of cases present before ten years of age, but manifestations may first be recognized as late as the sixth decade.
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Tay–Sachs disease is inherited in an autosomal recessive pattern. The HEXA gene is located on the long (q) arm of human chromosome 15, between positions 23 and 24. Tay–Sachs disease is an autosomal recessive genetic disorder, meaning that when both parents are carriers, there is a 25% risk of giving birth to an affected child with each ...