journal
https://read.qxmd.com/read/38428378/the-mendelian-disorders-of-chromatin-machinery-harnessing-metabolic-pathways-and-therapies-for-treatment
#21
REVIEW
Sarah Donoghue, Jordan Wright, Anne K Voss, Paul J Lockhart, David J Amor
The Mendelian disorders of chromatin machinery (MDCMs) represent a distinct subgroup of disorders that present with neurodevelopmental disability. The chromatin machinery regulates gene expression by a range of mechanisms, including by post-translational modification of histones, responding to histone marks, and remodelling nucleosomes. Some of the MDCMs that impact on histone modification may have potential therapeutic interventions. Two potential treatment strategies are to enhance the intracellular pool of metabolites that can act as substrates for histone modifiers and the use of medications that may inhibit or promote the modification of histone residues to influence gene expression...
February 27, 2024: Molecular Genetics and Metabolism
https://read.qxmd.com/read/38429125/it-s-time-to-reconsider-the-newborn-screening-rusp-prospective-pilot-study-n-of-1-rule
#22
EDITORIAL
Michael H Gelb, Dietrich Matern, Matthew Ellinwood, Amy Gaviglio
No abstract text is available yet for this article.
February 24, 2024: Molecular Genetics and Metabolism
https://read.qxmd.com/read/38458123/major-clinical-events-and-healthcare-resource-use-among-patients-with-long-chain-fatty-acid-oxidation-disorders-in-the-united-states-results-from-lc-faod-odyssey-program
#23
JOURNAL ARTICLE
Erru Yang, Eliza Kruger, David Yin, Kieran Mace, Meghan Tierney, Noelle Liao, Emily Cibelli, Dan Drozd, Nathan Ross, Kathleen L Deering, Peter Herout, Qing Harshaw, Alicia Shillington, Nina Thomas, Deborah Marsden, Amy Kritzer, Jerry Vockley
Major clinical events (MCEs) related to long-chain fatty acid oxidation disorders (LC-FAOD) in triheptanoin clinical trials include inpatient or emergency room (ER) visits for three major clinical manifestations: rhabdomyolysis, hypoglycemia, and cardiomyopathy. However, outcomes data outside of LC-FAOD clinical trials are limited. The non-interventional cohort LC-FAOD Odyssey study examines data derived from US medical records and patient reported outcomes to quantify LC-FAOD burden according to management strategy including MCE frequency and healthcare resource utilization (HRU)...
February 23, 2024: Molecular Genetics and Metabolism
https://read.qxmd.com/read/38430613/a-review-of-fatty-acid-oxidation-disorder-mouse-models
#24
REVIEW
Shannon J Babcock, Sander M Houten, Melanie B Gillingham
Fatty acid oxidation disorders (FAODs) are a family of rare, genetic disorders that affect any part of the fatty acid oxidation pathway. Patients present with severe phenotypes, such as hypoketotic hypoglycemia, cardiomyopathy, and rhabdomyolysis, and currently manage these symptoms by the avoidance of fasting and maintaining a low-fat, high-carbohydrate diet. Because knowledge about FAODs is limited due to the small number of patients, rodent models have been crucial in learning more about these disorders, particularly in studying the molecular mechanisms involved in different phenotypes and in evaluating treatments for patients...
February 23, 2024: Molecular Genetics and Metabolism
https://read.qxmd.com/read/38603816/plasma-chitotriosidase-enzyme-activity-as-a-novel-therapeutic-monitor-for-cysteamine-treatment-in-nephropathic-cystinosis-a-retrospective-validation-study
#25
JOURNAL ARTICLE
Koenraad Veys, Mohamed A Elmonem, Lambert van den Heuvel, William A Gahl, Elena Levtchenko
BACKGROUND: Cystine-depleting therapy in nephropathic cystinosis is currently monitored via the white blood cell cystine assay, although its application and usefulness are limited by practical and technical issues. Therefore, alternative biomarkers that are widely available, more economical and less technically demanding, while reliably reflecting long-term adherence to cysteamine treatment, are desirable. Recently, we proposed chitotriosidase enzyme activity as a potential novel biomarker for the therapeutic monitoring of cysteamine treatment in cystinosis...
May 2024: Molecular Genetics and Metabolism
https://read.qxmd.com/read/38341365/corrigendum-to-on-emerging-enzyme-replacement-therapies-for-neuronopathic-mucopolysaccharidosis-ii-molecular-genetics-and-metabolism-volume-141-issue-3-2024-108143
#26
Y Sato, P Yoshida, T Yamamoto, S So, K Tanizawa
No abstract text is available yet for this article.
March 2024: Molecular Genetics and Metabolism
https://read.qxmd.com/read/38301529/mucopolysaccharidosis-type-vii-sly-syndrome-what-do-we-know
#27
REVIEW
Christina L Grant, Jaime López-Valdez, Deborah Marsden, Fatih Ezgü
Mucopolysaccharidosis type VII (MPS VII) is an ultra-rare, life-threatening, progressive disease caused by genetic mutations that affect lysosomal storage/function. MPS VII has an estimated prevalence of <1:1,000,000 and accounts for <3% of all MPS diagnoses. Given the rarity of MPS VII, comprehensive information on the disease is limited and we present a review of the current understanding. In MPS VII, intracellular glycosaminoglycans accumulate due to a deficiency in the lysosomal enzyme that is responsible for their degradation, β-glucuronidase, which is encoded by the GUSB gene...
March 2024: Molecular Genetics and Metabolism
https://read.qxmd.com/read/38244286/impact-of-genetic-and-non-genetic-factors-on-phenotypic-diversity-in-nbas-associated-disease
#28
JOURNAL ARTICLE
Nicole Hammann, Dominic Lenz, Ivo Baric, Ellen Crushell, Carlo Dionisi Vici, Felix Distelmaier, Francois Feillet, Peter Freisinger, Maja Hempel, Anna L Khoreva, Martin W Laass, Yves Lacassie, Elke Lainka, Catherine Larson-Nath, Zhongdie Li, Patryk Lipiński, Eberhard Lurz, André Mégarbané, Susana Nobre, Giorgia Olivieri, Bianca Peters, Paolo Prontera, Lea D Schlieben, Christine M Seroogy, Cristina Sobacchi, Shigeru Suzuki, Christel Tran, Jerry Vockley, Jian-She Wang, Matias Wagner, Holger Prokisch, Sven F Garbade, Stefan Kölker, Georg F Hoffmann, Christian Staufner
Biallelic pathogenic variants in neuroblastoma-amplified sequence (NBAS) cause a pleiotropic multisystem disorder. Three clinical subgroups have been defined correlating with the localisation of pathogenic variants in the NBAS gene: variants affecting the C-terminal region of NBAS result in SOPH syndrome (short stature, optic atrophy, Pelger-Huët anomaly), variants affecting the Sec 39 domain are associated with infantile liver failure syndrome type 2 (ILFS2) and variants affecting the ß-propeller domain give rise to a combined phenotype...
March 2024: Molecular Genetics and Metabolism
https://read.qxmd.com/read/38458124/improving-newborn-screening-test-performance-for-metachromatic-leukodystrophy-recommendation-from-a-pre-pilot-study-that-identified-a-late-infantile-case-for-treatment
#29
JOURNAL ARTICLE
Teresa H Y Wu, Heather A Brown, Heather J Church, Christopher J Kershaw, Rebekah Hutton, Christine Egerton, James Cooper, Karen Tylee, Rebecca N Cohen, David Gokhale, Dipak Ram, Georgina Morton, Michael Henderson, Brian W Bigger, Simon A Jones
Metachromatic leukodystrophy (MLD) is a devastating rare neurodegenerative disease. Typically, loss of motor and cognitive skills precedes early death. The disease is characterised by deficient lysosomal arylsulphatase A (ARSA) activity and an accumulation of undegraded sulphatide due to pathogenic variants in the ARSA gene. Atidarsagene autotemcel (arsa-cel), an ex vivo haematopoietic stem cell gene therapy was approved for use in the UK in 2021 to treat early-onset forms of pre- or early-symptomatic MLD. Optimal outcomes require early diagnosis, but in the absence of family history this is difficult to achieve without newborn screening (NBS)...
February 20, 2024: Molecular Genetics and Metabolism
https://read.qxmd.com/read/38387305/bridging-the-clinical-research-gap-harnessing-an-electronic-data-capture-integration-and-visualization-platform-to-systematically-assess-prospective-patient-reported-outcomes-in-mitochondrial-medicine
#30
JOURNAL ARTICLE
Laura E MacMullen, Ibrahim George-Sankoh, Katelynn Stanley, Elizabeth M McCormick, Colleen C Muraresku, Amy Goldstein, Zarazuela Zolkipli-Cunningham, Marni J Falk
PURPOSE: Optimizing individualized clinical care in heterogeneous rare disorders, such as primary mitochondrial disease (PMD), will require gaining more comprehensive and objective understanding of the patient experience by longitudinally tracking quantifiable patient-specific outcomes and integrating subjective data with clinical data to monitor disease progression and targeted therapeutic effects. METHODS: Electronic surveys of patient (and caregiver) reported outcome (PRO) measures were administered in REDCap within clinical domains commonly impaired in patients with PMD in the context of their ongoing routine care, including quality of life, fatigue, and functional performance...
February 16, 2024: Molecular Genetics and Metabolism
https://read.qxmd.com/read/38401382/breaking-the-chains-of-lipoprotein-lipase-deficiency-a-pediatric-perspective-on-the-efficacy-and-safety-of-volanesorsen
#31
JOURNAL ARTICLE
Bibiche den Hollander, Marion M Brands, Ilse J M Nijhuis, Lous J A E Doude van Troostwijk, Peter van Essen, Ageeth H Hofsteenge, Bart G Koot, Annelieke R Müller, Laura A Tseng, Erik S G Stroes, Peter M van de Ven, Albert Wiegman, Clara D M van Karnebeek
RATIONALE: Lipoprotein lipase (LPL) deficiency, a rare inherited metabolic disorder, is characterized by high triglyceride (TG) levels and life-threatening acute pancreatitis. Current treatment for pediatric patients involves a lifelong severely fat-restricted diet, posing adherence challenges. Volanesorsen, an EMA-approved RNA therapy for adults, effectively reduces TG levels by decreasing the production of apolipoprotein C-III. This 96-week observational open-label study explores Volanesorsen's safety and efficacy in a 13-year-old female with LPL deficiency...
February 13, 2024: Molecular Genetics and Metabolism
https://read.qxmd.com/read/38368708/systematic-analysis-of-genotype-phenotype-variability-in-siblings-with-aicardi-gouti%C3%A3-res-syndrome-ags
#32
JOURNAL ARTICLE
Isabella Peixoto de Barcelos, Sarah Woidill, Francesco Gavazzi, Nicholson B Modesti, Anjana Sevagamoorthy, Adeline Vanderver, Laura Adang
OBJECTIVE: Aicardi Goutières Syndrome (AGS) is a genetic interferonopathy associated with multisystemic heterogeneous disease and neurologic dysfunction. AGS includes a broad phenotypic spectrum which is only partially explained by genotype. To better characterize this variability, we will perform a systematic analysis of phenotypic variability in familial cases of AGS. METHODS: Among thirteen families, twenty-six siblings diagnosed with AGS were identified from the Myelin Disorders and Biorepository Project (MDBP) at the Children's Hospital of Philadelphia...
February 13, 2024: Molecular Genetics and Metabolism
https://read.qxmd.com/read/38387306/the-mmachc-variant-c-158t-c-mild-clinical-and-biochemical-phenotypes-and-marked-hydroxocobalamin-response-in-cblc-patients
#33
JOURNAL ARTICLE
Tanguy Demaret, Karine Bédard, Jean-François Soucy, David Watkins, Pierre Allard, Alina Levtova, Alan O'Brien, Catherine Brunel-Guitton, David S Rosenblatt, Grant A Mitchell
Mutations in MMACHC cause cobalamin C disease (cblC, OMIM 277400), the commonest inborn error of vitamin B12 metabolism. In cblC, deficient activation of cobalamin results in methylcobalamin and adenosylcobalamin deficiency, elevating methylmalonic acid (MMA) and total plasma homocysteine (tHcy). We retrospectively reviewed the medical files of seven cblC patients: three compound heterozygotes for the MMACHC (NM_015506.3) missense variant c.158T>C p.(Leu53Pro) in trans with the common pathogenic mutation c...
February 10, 2024: Molecular Genetics and Metabolism
https://read.qxmd.com/read/38367583/outcomes-in-14-live-births-resulting-from-pegvaliase-treated-pregnancies-in-pku-affected-females
#34
JOURNAL ARTICLE
Caide Bier, Kaelin Dickey, Brittan Bibb, Angela Crutcher, Rebecca Sponberg, Richard Chang, Monica Boyer, Laura Davis-Keppen, Cindy Matthes, Michelle Tharp, Danielle Vice, Erin Cooney, Megan Morand, Joseph Ray, Melissa Lah, Markey McNutt, Hans C Andersson
BACKGROUND: Adults with PKU have difficulty maintaining plasma phenylalanine (Phe) in the range that is safe for neurologic function. Elevated plasma Phe is a risk factor for congenital anomalies and developmental delay in offspring resulting from pregnancies with poor Phe control in women with PKU. Enzyme supplementation with pegvaliase allows adults with PKU to eat an unrestricted diet and have plasma Phe levels in a safe range for pregnancy but pegvaliase has not been approved for use in pregnant females with PKU...
February 3, 2024: Molecular Genetics and Metabolism
https://read.qxmd.com/read/38522180/pegvaliase-therapy-for-phenylketonuria-real-world-case-series-and-clinical-insights
#35
JOURNAL ARTICLE
Iris Scala, Lucia Brodosi, Daniela Gueraldi, Filippo Manti, Valentina Rovelli, Juri Zuvadelli, Giulio Agnelli, Chiara Cazzorla, Francesca Nardecchia, Antonina Giammanco, Giacomo Biasucci
OBJECTIVE: The aim of this study is to present a series of case studies on the real-life use of pegvaliase in Italy in managing patients affected by phenylketonuria (PKU) and provide practical insight and support to healthcare professionals currently approaching and facing this novel enzyme substitution therapy. METHODS: A panel of 11 PKU experts from seven leading Italian treatment centers attended online virtual meetings with the aim of reviewing their clinical and practical experiences with pegvaliase based on occurred cases...
February 2, 2024: Molecular Genetics and Metabolism
https://read.qxmd.com/read/38307693/worldsymposium%C3%A2-2024-program
#36
(no author information available yet)
No abstract text is available yet for this article.
February 2024: Molecular Genetics and Metabolism
https://read.qxmd.com/read/38307692/worldsymposium%C3%A2-2024-introduction
#37
EDITORIAL
(no author information available yet)
No abstract text is available yet for this article.
February 2024: Molecular Genetics and Metabolism
https://read.qxmd.com/read/38307691/worldsymposium%C3%A2-2024
#38
(no author information available yet)
No abstract text is available yet for this article.
February 2024: Molecular Genetics and Metabolism
https://read.qxmd.com/read/38184428/effect-of-avalglucosidase-alfa-on-disease-specific-and-general-patient-reported-outcomes-in-treatment-na%C3%A3-ve-adults-with-late-onset-pompe-disease-compared-with-alglucosidase-alfa-meaningful-change-analyses-from-the-phase-3-comet-trial
#39
RANDOMIZED CONTROLLED TRIAL
Antonio Toscano, Laurence Pollissard, Jérôme Msihid, Nadine van der Beek, Priya S Kishnani, Mazen M Dimachkie, Kenneth I Berger, Pronabesh DasMahapatra, Nathan Thibault, Alaa Hamed, Tianyue Zhou, Kristina An Haack, Benedikt Schoser
BACKGROUND: The Phase 3 COMET trial (NCT02782741) comparing avalglucosidase alfa and alglucosidase alfa included health-related quality of life (HRQoL) assessments in treatment-naïve patients with late-onset Pompe disease (LOPD). Here, we further characterize results from disease-specific and general patient-reported outcome (PRO) measures. METHODS: Adults who participated in the COMET trial receiving avalglucosidase alfa or alglucosidase alfa (both 20 mg/kg biweekly) during the 49-week double-blind treatment period were included in the analysis...
February 2024: Molecular Genetics and Metabolism
https://read.qxmd.com/read/38302374/newborn-screening-for-aromatic-l-amino-acid-decarboxylase-deficiency-strategies-results-and-implication-for-prevalence-calculations
#40
JOURNAL ARTICLE
Anna T Reischl-Hajiabadi, Jürgen G Okun, Dirk Kohlmüller, Georgi Manukjan, Sebastian Hegert, Jürgen Durner, Elfriede Schuhmann, Friederike Hörster, Ulrike Mütze, Patrik Feyh, Georg F Hoffmann, Wulf Röschinger, Nils Janzen, Thomas Opladen
BACKGROUND: Aromatic l-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal-recessive neurometabolic disorder caused by variants in dopa decarboxylase (DDC) gene, resulting in a severe combined deficiency of serotonin, dopamine, norepinephrine, and epinephrine. Birth prevalence of AADCD varies by population. In pilot studies, 3-O-methyldopa (3-OMD) was shown to be a reliable biomarker for AADCD in high-throughput newborn screening (NBS) allowing an early diagnosis and access to gene therapy...
January 29, 2024: Molecular Genetics and Metabolism
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