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Renal Disease; Fluid and Electrolyte Disorders
Published in John S. Axford, Chris A. O'Callaghan, Medicine for Finals and Beyond, 2023
This is an X-linked genetic deficiency of the enzyme alpha galactosidase A (Gal A) resulting in intracellular accumulation of glycosphingolipid. Proteinuria occurs in adult life and progresses to end-stage renal disease. Systemic features include angiokeratomas (dark red papules) of the skin, coronary artery disease resulting from endothelial thickening and autonomic dysfunction.
Genetics and Genetic Testing in Hypertrophic Cardiomyopathy
Published in Srilakshmi M. Adhyapak, V. Rao Parachuri, Hypertrophic Cardiomyopathy, 2020
For example, Danon disease is associated with a rapidly progressive clinical course with a high frequency of lethal arrhythmias within the first three decades of life; these patients require an early referral for cardiac transplantation [26, 27]. Similarly, in Fabry disease, early institution of enzyme replacement therapy in the form of recombinant alpha-galactosidase A may potentially lead to regression of LVH and improvement in various cardiovascular performance indicators [28, 29].
Metabolic Diseases
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Stephanie Grünewald, Alex Broomfield, Callum Wilson
The presence of classical features of the disease (cardiomyopathy, renal disease, etc.) in a patient who has a relative with confirmed Fabry disease and in whom an X-linked inheritance pattern is possible (e.g. son of a known affected female as opposed to the son of a known affected male) is highly suggestive of the diagnosis. The condition can be confirmed by measuring the activity of the enzyme alpha-galactosidase in white cells. Females can sometimes have false negative enzymology and a molecular or biochemical test may be required.
Safety and Efficacy of N-SORB®, a Proprietary KD120 MEC Metabolically Activated Enzyme Formulation: A Randomized, Double-Blind, Placebo-Controlled Study
Published in Journal of the American College of Nutrition, 2019
Qiurong Wang, Rui Guo, Sreejayan Nair, Derek Smith, Bledar Bisha, Anand S. Nair, Rama Nair, Bernard W. Downs, Steve Kushner, Manashi Bagchi
Endogenous digestive enzymes are site- and substrate-specific and mostly activated and work in a pH range of 2 to 5.5 (29). N-SORB is a novel proprietary KD120 MEC metabolically activated enzyme formulation. These enzymes structurally resemble regular digestive enzymes such as amylase, protease, lipase, alpha galactosidase, and glucoamylase. However, N-SORB enzymes function in a pH range between 6.5 and 8.5. This specially engineered enzyme formulation utilizes an exclusive phospholipid (“Prodosome”) encapsulation technology that was shown to promote rapid and sustainable nutrient absorption of nutritional ingredients that effected positive changes in properties of the blood (30). Case studies, and preliminary observations in our laboratories have demonstrated that N-SORB-treated subjects had beneficial effects on their lifestyle. Subjects of different age group (age 20–71 years) have reported significant improvement of gastrointestinal functions, gut health, and increased metabolism without any adverse events. Other benefits include improved digestion, improvement of leaky gut syndrome with less gastrointestinal pain, less fatigue, less bloating, improved bowel movements, and increased energy level (20,21).
Opportunistic bacteria confer the ability to ferment prebiotic starch in the adult cystic fibrosis gut
Published in Gut Microbes, 2019
Yanan Wang, Lex E.X. Leong, Rebecca L. Keating, Tokuwa Kanno, Guy C.J. Abell, Fredrick M. Mobegi, Jocelyn M. Choo, Steve L. Wesselingh, A. James Mason, Lucy D. Burr, Geraint B. Rogers
The representation of functional genes within both CF and healthy faecal metagenomes also differed significantly (P(perm) = 0.0019, ECV = 6.15, 9,939 permutations). This divergence included significant differences in the proportion of normalised reads that mapped to individual KEGG pathways, including important genes involved in carbohydrate metabolism (Supplementary Figure1). The gene encoding phosphotransacetylase (pta), an enzyme that catalyses the conversion of acetyl-CoA to acetyl-phosphate in the acetate biosynthesis pathway, was significantly lower in CF metagenomes compared to healthy controls (Supplementary Figure 2A). In contrast, galA, the gene that encodes alpha-galactosidase in the galactose metabolic pathway, was significantly more highly represented in CF metagenomes (Supplementary Figure 1). No significant differences were observed in the representation of normalised levels of butyrate or propionate biosynthesis pathway genes in CF and healthy controls (Supplementary Figure 2B-C), suggesting that the fermentation pathways resulting in the production of these SCFAs is conserved in the CF metagenome.
Animal models for Niemann-Pick type C: implications for drug discovery & development
Published in Expert Opinion on Drug Discovery, 2019
Cathrine K. Fog, Thomas Kirkegaard
To this end, other models such as the Npc1nmf164 and Npc1I1061T mouse models have been developed that could be feasible to test various chaperoning and proteostasis targeted strategies including proteasome inhibition and modulation of cellular molecular chaperones (e.g. HSP70) [8,10,11,25,49,70,112]. In this regard, in vitro models including patient cells and their derivatives might present superior systems to properly address chaperoning strategies as the mutations addressed here are of immediate clinical relevance and the systems allow for a much higher rate of analysis of various genotypes. The potential of this approach was recently demonstrated by the approval by EMA and FDA of migalastat for Fabry disease patients >16 years who have an amenable mutation. The amenability of a given mutation is assessed by an in vitro assay measuring alpha-Galactosidase A activity which forms the basis for classifying the mutation as amenable or not, and hence whether the therapy is indicated [113–116].