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Neurochemical Abnormalities in Patients with Type 1 Gaucher Disease on Standard of Care Therapy.

08:00 EDT 15th October 2019 | BioPortfolio

Summary of "Neurochemical Abnormalities in Patients with Type 1 Gaucher Disease on Standard of Care Therapy."

Type 1 Gaucher disease (GD1), a glycosphingolipid storage disorder caused by deficient activity of lysosomal glucocerebrosidase, is classically considered non-neuronopathic. However, current evidence challenges this view. Multiple studies show that mutations in GBA1 gene and decreased glucocerebrosidase activity are associated with increased risk for Parkinson disease. We tested the hypothesis that subjects with GD1 will show neurochemical abnormalities consistent with cerebral involvement.

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This article was published in the following journal.

Name: Journal of inherited metabolic disease
ISSN: 1573-2665
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Medical and Biotech [MESH] Definitions

An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.

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