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Diabetes Mellitus, Obesity, Lipoprotein Disorders and other Metabolic Diseases
Published in John S. Axford, Chris A. O'Callaghan, Medicine for Finals and Beyond, 2023
Lysosomal storage diseases have been classified into groups according to the type of macromolecule affected (Table 11.28). These groups include:SphingolipidosesMucopolysaccharidosesMucolipidoses
Basic genetics and patterns of inheritance
Published in Hung N. Winn, Frank A. Chervenak, Roberto Romero, Clinical Maternal-Fetal Medicine Online, 2021
In conditions associated with an enzyme deficiency, methods have been developed to provide systemic delivery of the missing enzyme to the patient. Enzyme replacement therapy for lysosomal storage diseases, such as Gaucher disease, Fabry disease, Hurler syndrome, and Pompe disease, has been very successful. Enzyme replacement therapy for other enzyme deficiency disorders is under development. Another approach has been to decrease the substrate for the deficient enzyme by giving a drug that inhibits an upstream enzyme in the pathway, thus decreasing accumulation of the toxic compound. This type of drug treatment has been approved for Gaucher disease and is being developed for other conditions.
Hyperkinetic Movement Disorders
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Morales-Briceno Hugo, Victor S.C. Fung, Annu Aggarwal, Philip Thompson
Lysosomal storage diseases: GM1, GM2 gangliosidoses (GM).Neuronal ceroid lipofuscinosis (NCL).Niemann–Pick type C (NPC).
Non-primary CMV infection not always innocent. A case-report and literature review
Published in Acta Clinica Belgica, 2022
Lieselot Arnouts, K. Van Mechelen, S. Laroche, M. Meuwissen, A. Boudewyns, M. Martens, L. Mahieu
Additional examinations were performed to exclude other contributing factors. An important differential consideration was Zellweger syndrome, based on the facial dysmorphisms with large anterior fontanel, hepatomegaly, hypotonia and hearing loss. An ultrasound of the kidneys was normal. Echocardiography showed an atrial septum defect type II and mild pulmonal hypertension. A metabolic screening, including very long chain fatty acids, urinary organic acids and amino acids and plasma isoelectric focusing of sialotransferrins was normal. Lysosomal storage diseases were excluded. Genome-wide analysis with whole exome sequencing (trio-analysis), using DNA extracted from blood lymphocytes from the patient and both parents, was normal. Over the next weeks the liver tests and cholestatic jaundice gradually improved and the facial dysmorphisms became less obvious. ABR was repeated after 1 and 6 months and showed stable hearing thresholds. At the age of 4 months, a central motor disorder with axial hypotonia and poor head control was suspected, for which physiotherapy was started.
Long-term safety and efficacy of agalsidase beta in Japanese patients with Fabry disease: aggregate data from two post-authorization safety studies
Published in Expert Opinion on Drug Safety, 2021
Mina Tsurumi, Shinya Suzuki, Jiro Hokugo, Kazuo Ueda
The number of therapies available for patients with lysosomal storage diseases has expanded considerably in the past several years [15,16]. Enzyme replacement therapy (ERT) represents the mainstay of treatment for Fabry Disease, with two different human recombinant α-GAL ERTs developed for Fabry disease. Agalsidase beta (Fabrazyme®), a recombinant form of human α-GAL, has been approved for the treatment of Fabry disease in the European Union and United States since 2001 [17] and 2003 [18], respectively, and in Japan since 2004 [19]. The other ERT, agalsidase alfa, has been available in the European Union since 2001 [20] and Japan since 2006 [21]. Administration of these agents has been shown to result in marked increases in α-GAL A activity in human Fabry cells and Fabry mouse tissues; however, enzymatic activity in cultured fibroblasts, kidneys, heart, and spleen was higher for agalsidase beta compared with agalsidase alfa [22]. More recently, pharmacological chaperone therapies have become available, and substrate reduction therapies and gene therapy approaches are also in development, which are expected to improve outcomes for patients with Fabry disease [23].
Nanoparticles as carriers for drug delivery of macromolecules across the blood-brain barrier
Published in Expert Opinion on Drug Delivery, 2020
Giovanni Tosi, J. T. Duskey, Jörg Kreuter
Lysosomal storage diseases (LSDs) are a group of about 50 rare inherited metabolic disorders that result from defects in lysosomal function. These defects are caused by lysosomal dysfunction due to the deficiency of a single enzyme required for the metabolism of lipids, glycoproteins, or mucopolysaccharides leading to the undegradable accumulation of these substances in the lysosomes [79,80]. One approach to overcome these deficiencies is enzyme replacement therapy (ERT). In this therapy the missing enzyme is administered by an infusion of the respective enzyme. Diseases for which ERT is available are Gaucher disease, Fabry disease, MPS-I, MPS-II (Hunter syndrome), MPS-VI, and Pompe disease. However, neurological deficits caused by these diseases cannot be treated by this therapy because the enzymes are unable to cross the BBB.