Showing papers in "Molecular Genetics and Metabolism in 2014"

TL;DR: A coordinated approach to PKU treatment improves long-term outcomes for those with PKU and facilitates the conduct of research to improve diagnosis and treatment, and there are significant gaps in predicting response to treatment.

TL;DR: It appears that many of the consequences of secondary pathogenic events, while they may improve on treatment, cannot be fully corrected even with long-term exposure to enzyme, thereby supporting the treatment of patients with MPS before the onset of clinical disease.

TL;DR: This review aims to describe the various phenotypes caused by germline mutation in these 10 Hox genes that cause a human phenotype, with specific emphasis paid to the genotypic and phenotypic differences between allelic disorders.

TL;DR: A natural history study illustrates how a collaborative study of a rare genetic disorder can result in an improved understanding of morbidity and disease outcome as well as an unexpectedly high risk for hepatic dysfunction in patients with ornithine transcarbamylase deficiency.

TL;DR: This report describes the methodology used in its development: formulation of five research questions; review, critical appraisal and abstraction of peer-reviewed studies and unpublished practice literature; and expert input through Delphi surveys and a nominal group process.

TL;DR: The focus of this review is to study existing literature on HHcy and its role in relation to DNA methylation, which includes studies which were conducted in animal models as well as humans.

TL;DR: Clinical trials have demonstrated that taliglucerase alfa is efficacious, with a well-established safety profile in adult, ERT-naïve patients with symptomatic GD1, and for such patients previously treated with imiglucerases, and maintenance of achieved therapeutic values in previously treated patients.

TL;DR: Investigation of large data evidence concludes that inflammation is a feature of MetS and several gene variants show pleiotropic genetic associations across phenotypes and might explain a part ofmetabolic syndrome correlated genetic architecture.

TL;DR: These recommendations support the clinician in early identification of treatable IEMs in the child with IDD, allowing for timely initiation of therapy with the potential to improve neurodevelopmental outcomes.

TL;DR: An observational GAMT database will be essential to identify the best treatment to reduce plasma guanidinoacetate levels and improve long-term outcomes.

TL;DR: Two novel long-lived transgenic mouse models of Gba deficiency, along with a subchronic conduritol-ß-epoxide (CBE) exposure paradigm are described and characterized, revealing striking glial activation within nigrostriatal pathways, accompanied by abnormal α-synuclein accumulation.

TL;DR: The knowledge of the pathogenesis of obesity and its metabolic sequelae has significantly advanced over the last few decades and adipose tissue is now considered a link between obesity and insulin resistance.

TL;DR: This review summarizes presentations from a recent conference on metabolic liver transplantation held at the Children's Hospital of Pittsburgh of UPMC on the role of liver or hepatocyte transplantation in the treatment of metabolic liver disease.

TL;DR: Close monitoring is recommended in all patients with GSD-VI and -IX for the long-term liver and cardiac complications and 16 novel pathogenic mutations in the PHKA2, PHKB, PHKG2 and PYGL genes are reported.

TL;DR: In this article, a tabulation of ten-year state NBS data for selected IEM detected through NBS, costs of medical foods used in the management of IEM, and an assessment of corporate policies regarding provision of nutritional interventions at no or reduced cost to individuals with IEM are provided.

TL;DR: A targeted next-generation sequencing assay for the detection of mutations in 36 genes known to cause monogenic forms of diabetes, including transient or permanent neonatal diabetes mellitus (TNDM or PNDM), maturity-onset diabetes of the young (MODY) and rare syndromic forms ofabetes.

TL;DR: PLAN should be considered not only in patients presenting with a classic INAD phenotype but also in older patients presenting later in childhood with non-specific progressive neurological features including social communication difficulties, gait disturbance, dyspraxia, neuropsychiatric symptoms and extrapyramidal motor features.

TL;DR: Cardiovascular risk factor modification and targeted use of ERT reduce the risk of adverse outcomes related to Fabry disease.

TL;DR: Four patients with PGM1 deficiency have been trialed on d-galactose (compassionate use), and showed improvement of serum transferrin hypoglycosylation, and there was a parallel improvement of liver function, endocrine abnormalities and a decrease in the frequency of hypoglycemic episodes.

TL;DR: Nine additional MTFMT patients from eight families who were affected with Leigh encephalopathy or white matter disease, microcephaly, mental retardation, ataxia, and muscular hypotonia are identified and causal mutations were identified by exome sequencing followed by stringent bioinformatic filtering.

TL;DR: Analysis of the non-reducing end glycans provides a method for monitoring enzyme replacement and substrate reduction therapies and serves as a discovery tool for uncovering novel biomarkers and new forms of mucopolysaccharidoses.

TL;DR: It is shown that the de-acylated form of sphingomyelin, lyso-SPM, is elevated approximately 5-fold in dried blood spots (DBS) from NPD-B patients and has no overlap with normal controls, making it a potentially useful biomarker.

TL;DR: In this article, the mtDNA point mutation was associated with the sideroblastic anemia (MLASA) phenotype in a 6-year-old male with developmental delay, lactic acidosis, epilepsy, agenesis of the corpus callosum, failure to thrive, and stroke-like episodes.

TL;DR: The role of LIMP-2 in human pathology has expanded with its identification as a component of the intercalated disk in cardiac muscle and as a receptor for specific enteroviruses, two unanticipated findings that reaffirm the myriad roles of lysosomal proteins.

TL;DR: The relevance of present and future diagnostic tools such as tandem mass spectrometry and next generation sequencing in newborn screening is highlighted, and a possible correlation between hyperhomocysteine and congenital disorders through the involvement of abnormal DNA methylation during embryogenesis is discussed.

TL;DR: Results indicate that variability in Phe should be carefully controlled to maximize cognitive outcomes and that Phe control should not be liberalized as children with PKU age.

TL;DR: Using absolute cut-off values in place of the initial 99th percentile reference range for the analyte markers and the introduction of two 2nd tier tests (MMA and Succinylacetone) had significantly reduced the high recall rate from an initial 1.5% during the period 2006-07 to 0.12% in 2013.

TL;DR: Experimental evidence that VPA triggers increased mitochondrial biogenesis by altering the expression of several mitochondrial genes is provided, however, the capacity of POLG-deficient liver cells to address the increased metabolic rate caused by VPA administration is significantly impaired.

TL;DR: A proportion of CTD patients show amenability to treatment-particularly milder cases with residual brain creatine, and therefore probable residual protein function, which can be used to discern effectiveness of future interventions.

TL;DR: This study presents the first demonstration that long-term nonsense suppression therapy can moderate progression of a genetic disease, and maintains α-L-iduronidase activity and GAG reduction in Idua(tm1Kmke) mice throughout a 28-week treatment period.