Niemann-Pick disease type C: from bench to bedside

Article Abstract:

Niemann-Pick disease type C is a neurological disorder caused by an accumulation of cholesterol in various tissues. It is a hereditary disease that has been linked to chromosome 18. The early form can occur in infancy and is characterized by jaundice and neurologic symptoms. This form progresses very quickly. The late form progresses more slowly. It can be diagnosed by measuring the esterification of cholesterol in tissue samples. This process is deficient in patients with Niemann-Pick C disease. There is no cure for the disease.

Physiological aspects, Genetic disorders, Nervous system diseases

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Clinical Features of and Recent Advances in Therapy for Fabry Disease

Article Abstract:

Intravenous infusions of alpha-galactosidase A is an effective treatment for patients with Fabry disease. This enzyme is deficient in these patients, causing painful nerve disease, kidney disease, cardiovascular and cerebrovascular disease and early death. Gene therapy may be able to correct the disorder in the future.

United States

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Enzyme Replacement Therapy in Fabry Disease: A Randomized Controlled Trial

Article Abstract:

Bi-weekly intravenous infusions of the enzyme alpha-galactosidase A may be an effective treatment for Fabry disease, according to a study of 26 patients. Fabry disease is caused by a deficiency of this enzyme, which causes pain, kidney disease, and cardiovascular disease.

Health aspects, Enzymes, Enzyme therapy

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