Showing papers in "Molecular Genetics and Metabolism in 2017"

TL;DR: Overall, the frequency of MPS varies for each population due to differences in ethnic backgrounds and/or founder effects that affect the birth prevalence of each type of M PS, as seen for other rare genetic diseases.

TL;DR: All patients with types A and B NPD have mutations in the gene encoding ASM (SMPD1), and thus the disease is more accurately referred to as ASM deficiency (ASMD).

TL;DR: An overview of the current knowledge about the structure and function of PCC is presented and an updated list of human variants which are published is reviewed to provide an overview ofThe disease.

TL;DR: Although there is a lack of curative therapies for mitochondrial disorders at the current time, the increased number of clinical research evaluating agents that target different aspects of mitochondrial dysfunction is promising and is expected to generate more therapeutic options for these diseases in the future.

TL;DR: The condition once primarily conceptualized as a limb-girdle muscle disease with prominent respiratory involvement is increasingly recognized to be a condition that results in signs and symptoms across body systems and structures.

TL;DR: Evidence indicates that these glycolipids can activate toll-like receptors, thus triggering inflammation and fibrosis cascades, and enzyme replacement therapy must be started early, before this process becomes irreversible.

TL;DR: Advances including recombinant production of the enzyme, the development of mouse models, pioneering gene therapy experiments, high throughput screens of small molecules and the generation of induced pluripotent stem cell models have all helped to catapult research in Gaucher disease into the twenty-first century.

TL;DR: Clinicians' recommendations of target blood Phe concentrations in the US are now stricter compared to prior years, and largely reflect recent guidelines by the American College of Medical Genetics and Genomics (Vockley et al., 2014).

TL;DR: A history of development of GAG assays and insights about the use of tandem mass spectrometry and its applications for GAG analysis are provided.

TL;DR: LysoGb3 serves as an useful biomarker to improve the diagnosis of FD heterozygotes and for therapeutic evaluation and monitoring.

TL;DR: Historical aspect, property of GAGs, diagnosis, screening, pathogenesis, and current and future therapies of MPS IVA are comprehensively described.

TL;DR: In this paper, the authors provide guidance on the monitoring of patients with hypophosphatasia during treatment with asfotase alfa, including recommendations for laboratory, efficacy, and safety assessments and the frequency with which these should be performed during the course of treatment.

TL;DR: Rates of fatigue/malaise, epilepsy/convulsions, sleep disturbance, personality disorders, phobias, psychosis, and migraines among those with PKU exceeded rates for the GP but were comparable to those with DM, with significantly lower rates of concomitant disorders occurring in younger, compared to older, adults with PK U.

TL;DR: Serum LysoGb3 relates to disease severity, enzyme replacement response, and to the genotype severity in males, and appears to be one marker of metabolic phenotyping of FD.

TL;DR: The diagnostic yield from WES in an unselected cohort of patients with a wide range of phenotypes is similar to other studies from the same region, which is a higher yield compared to other international regions largely because of the high rate of consanguinity and partly due to simplified variant interpretation and classification in consanguineous unions.

TL;DR: It is indicated that overall survival is a meaningful primary outcome measure for future clinical trials due to reliable timing and early occurrence of this event and combination therapy approaches, instead of monotherapy approaches, will likely be the best way to optimize clinical outcomes.

TL;DR: The development of gene therapy for MPS in preclinical and clinical trials is summarized, finding that gene therapy should be a one-time permanent therapy, repairing the cause of enzyme deficiency.

TL;DR: The current retrospective cohort study shows that initiation of ERT at younger age in men with classical Fabry disease results in a better biochemical response.

TL;DR: The appearance and progression of neurological signs and symptoms in patients with MPS I, II, and III are described, based on presentations and discussions among an international group of experts during a meeting on the brain in MPS on April 28-30, 2016, and additional literature searches on this subject.

TL;DR: Guidance is provided for diagnosis and management, treatment and surveillance, including for status dystonicus and other emergency care, and education and psychosocial support.

TL;DR: In patients with severe LC-FAOD, UX007 interim study results demonstrated improved exercise endurance and tolerance, and were associated with positive changes in self-reported HR-QoL.

TL;DR: This review summarizes existing and potential future treatment approaches that target brain disease in MPS based on current literature and presentations and discussions during a closed meeting by an international group of experts with extensive experience in managing and treating MPS.

TL;DR: In this article, longitudinal data on dried blood spot (DBS) psychosine concentrations in different Krabbe disease phenotypes for both untreated patients and those treated with hematopoietic stem cell transplantation (HSCT) were provided.

TL;DR: Various mouse models of CBS deficiency are reviewed and how these mouse models compare to human CBS deficient patients are discussed.

TL;DR: Whole exome sequencing will likely identify more patients with normal TIEF and expand the phenotypic spectrum ofCDG-I and CDG-II and help identify and diagnose patients with inborn defects of glycosylation.

TL;DR: Significant differences in carrier frequencies among patients with morbid obesity and normal weight controls suggest an association between heterozygous rare coding variants in these five genes and morbid obesity, however, additional studies in larger cohorts and functional testing of the novel variants identified are required to confirm the findings.

TL;DR: DBS provides a convenient, sensitive, and reproducible source to measure Lyso-Gb3 levels for diagnosis, initial phenotypic assignment, and therapeutic monitoring in patients with Fabry disease.

TL;DR: There is a clear need for straightforward and easy-to-follow guidance designed to assist non-specialists to identify earlier patients who are at risk of Gaucher disease.

TL;DR: C26:0-lysoPC is a better and more accurate biomarker for ALD than plasma VLCFA levels and is recommended to be added to the routine biochemical array of diagnostic tests for peroxisomal disorders.