keyword
https://read.qxmd.com/read/38447494/delays-in-latencies-of-median-nerve-evoked-magnetic-fields-in-patients-with-succinic-semialdehyde-dehydrogenase-deficiency
#21
JOURNAL ARTICLE
Teppei Matsubara, Sheraz Khan, Padmavathi Sundaram, Steven Stufflebeam, Deniz Aygun, Melissa DiBacco, Jean-Baptiste Roullet, Phillip L Pearl, Yoshio Okada
OBJECTIVE: Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a genetic disorder resulting in abnormal regulation of γ-aminobutyric acid, lipid metabolism, and myelin biogenesis, leading to ataxia, seizures, and cognitive impairment. Since the myelin sheath is thinner in a murine model of SSADHD compared to a wild type, we hypothesized that this also holds for human brain. We tested whether the conduction velocity in the somatosensory pathway is accordingly delayed. METHODS: Somatosensory evoked magnetic fields (SEF) produced by transcutaneous electrical stimulation of the median nerve were measured in 13 SSADHD patients, 11 healthy and 14 disease controls with focal epilepsy...
February 16, 2024: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://read.qxmd.com/read/38442492/satisfaction-with-home-blood-sampling-methods-and-expectations-for-future-point-of-care-testing-in-phenylketonuria-perspectives-from-patients-and-professionals
#22
JOURNAL ARTICLE
Allysa M Kuypers, Kimber Evers-van Vliet, Anita MacDonald, Kirsten Ahring, David Abeln, Suzanne Ford, Sanne Hildebrandt-Karlsen, Francjan J van Spronsen, M Rebecca Heiner-Fokkema
INTRODUCTION: Phenylketonuria (PKU) requires regular phenylalanine monitoring to ensure optimal outcome. However, home sampling methods used for monitoring suffer high pre-analytical variability, inter-laboratory variability and turn-around-times, highlighting the need for alternative methods of home sampling or monitoring. METHODS: A survey was distributed through email and social media to (parents of) PKU patients and professionals working in inherited metabolic diseases in Denmark, The Netherlands, and United Kingdom regarding satisfaction with current home sampling methods and expectations for future point-of-care testing (POCT)...
February 29, 2024: Molecular Genetics and Metabolism
https://read.qxmd.com/read/38438248/altered-myocardial-lipid-regulation-in-junctophilin-2-associated-familial-cardiomyopathies
#23
JOURNAL ARTICLE
Satadru K Lahiri, Feng Jin, Yue Zhou, Ann P Quick, Carlos F Kramm, Meng C Wang, Xander Ht Wehrens
Myocardial lipid metabolism is critical to normal heart function, whereas altered lipid regulation has been linked to cardiac diseases including cardiomyopathies. Genetic variants in the JPH2 gene can cause hypertrophic cardiomyopathy (HCM) and, in some cases, dilated cardiomyopathy (DCM). In this study, we tested the hypothesis that JPH2 variants identified in patients with HCM and DCM, respectively, cause distinct alterations in myocardial lipid profiles. Echocardiography revealed clinically significant cardiac dysfunction in both knock-in mouse models of cardiomyopathy...
May 2024: Life Science Alliance
https://read.qxmd.com/read/38433544/-comparative-analysis-of-bone-complications-manifestations-in-sporadic-and-men1-related-primary-hyperparathyroidism
#24
JOURNAL ARTICLE
S V Pylina, A K Eremkina, A R Elfimova, A M Gorbacheva, N G Mokrysheva
BACKGROUND: Multiple endocrine neoplasia type 1 (MEN1) - is a rare syndrome with an autosomal dominant inheritance pattern caused by a mutation in the tumor suppressor gene (MEN1). Parathyroid involvement is the most common MEN1 manifestation resulting in primary hyperparathyroidism (mPHPT). Data on the prevalence and structure of bone disease in mPHPT compared to sporadic one (sPHPT) are often incomplete and contradictory. AIM: The purpose of this study was to compare the severity of bone involvement between mPHPT and sPHPT...
February 28, 2024: Problemy E̊ndokrinologii
https://read.qxmd.com/read/38433424/efficacy-and-safety-of-sapropterin-before-and-during-pregnancy-final-analysis-of-the-kuvan%C3%A2-adult-maternal-paediatric-european-registry-kamper-maternal-and-phenylketonuria-developmental-outcomes-and-safety-pkudos-pku-moms-sub-registries
#25
JOURNAL ARTICLE
François Feillet, Can Ficicioglu, Florian B Lagler, Nicola Longo, Ania C Muntau, Alberto Burlina, Friedrich K Trefz, Francjan J van Spronsen, Jean-Baptiste Arnoux, Kristin Lindstrom, Joshua Lilienstein, Gillian E Clague, Richard Rowell, Barbara K Burton
Infants born to mothers with phenylketonuria (PKU) may develop congenital abnormalities because of elevated phenylalanine (Phe) levels in the mother during pregnancy. Maintenance of blood Phe levels between 120 and 360 μmol/L reduces risks of birth defects. Sapropterin dihydrochloride helps maintain blood Phe control, but there is limited evidence on its risk-benefit ratio when used during pregnancy. Data from the maternal sub-registries-KAMPER (NCT01016392) and PKUDOS (NCT00778206; PKU-MOMs sub-registry)-were collected to assess the long-term safety and efficacy of sapropterin in pregnant women in a real-life setting...
March 3, 2024: Journal of Inherited Metabolic Disease
https://read.qxmd.com/read/38432869/a-case-of-erythrogenic-protoporphyria-with-thyrotoxicosis-and-liver-dysfunction-in-an-adult-female
#26
JOURNAL ARTICLE
Qingqing Li, Xiaoyan Chen, Hong Wang, Biguang Tuo, Zunlan Zhou, Lina Yang
Erythropoietic protoporphyria (EPP) is an inherited metabolic disease caused by the deficiency in ferrochelatase (FECH) encoded by the FECH gene, and it is inherited in an autosomal recessive manner. EPP usually produces acute pain photosensitivity after exposure to sunlight in infancy or early childhood, and liver failure is the most serious associated complication. This article reported an adult female case of EPP complicated with thyrotoxicosis and liver dysfunction which is a rare condition. The patient's liver function improved after liver protection treatment, her thyroid function returned to normal, and her EPP symptoms improved significantly...
November 28, 2023: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
https://read.qxmd.com/read/38430071/bi-allelic-nit1-variants-cause-a-brain-small-vessel-disease-characterized-by-movement-disorders-massively-dilated-perivascular-spaces-and-intracerebral-hemorrhage
#27
JOURNAL ARTICLE
Julie W Rutten, Minne N Cerfontaine, Kyra L Dijkstra, Aat A Mulder, Jeroen Vreijling, Mark Kruit, Roman I Koning, Susanne T de Bot, Koen M van Nieuwenhuizen, Hans J Baelde, Henk W Berendse, Leon H Mei, George J G Ruijter, Frank Baas, Carolina R Jost, Sjoerd G van Duinen, Esther A R Nibbeling, Gido Gravesteijn, Saskia A J Lesnik Oberstein
PURPOSE: To describe a recessively inherited cerebral small vessel disease, caused by loss-of-function variants in Nitrilase1 (NIT1). METHODS: We performed exome sequencing, brain MRI, neuropathology, electron microscopy, Western Blotting and transcriptomic and metabolic analyses in seven NIT1-small vessel disease patients from five unrelated pedigrees. RESULTS: The first identified patients were three siblings, compound heterozygous for the NIT1 c...
February 27, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/38430011/longitudinal-volumetric-analysis-of-gray-matter-atrophy-in-metachromatic-leukodystrophy
#28
JOURNAL ARTICLE
Murtadha L Al-Saady, Hristina Galabova, Daphne H Schoenmakers, Shanice Beerepoot, Caroline Lindemans, Peter M van Hasselt, Marjo S van der Knaap, Nicole I Wolf, Petra J W Pouwels
Metachromatic leukodystrophy (MLD) is an inherited lysosomal storage disorder characterized by arylsulfatase A (ASA) deficiency, leading to sulfatide accumulation and myelin degeneration in the central nervous system. While primarily considered a white matter (WM) disease, gray matter (GM) is also affected in MLD, and hematopoietic stem cell transplantation (HSCT) may have limited effect on GM atrophy. We cross-sectionally and longitudinally studied GM volumes using volumetric MRI in a cohort of 36 (late-infantile, juvenile and adult type) MLD patients containing untreated and HSCT treated subjects...
March 2, 2024: Journal of Inherited Metabolic Disease
https://read.qxmd.com/read/38425868/induced-pluripotent-stem-cell-derived-hepatocytes-reveal-tca-cycle-disruption-and-the-potential-basis-for-triheptanoin-treatment-for-malate-dehydrogenase-2-deficiency
#29
JOURNAL ARTICLE
Déborah Mathis, Jasmine Koch, Sophie Koller, Kay Sauter, Christa Flück, Anne-Christine Uldry, Patrick Forny, D Sean Froese, Alexander Laemmle
UNLABELLED: Mitochondrial malate dehydrogenase 2 (MDH2) is crucial to cellular energy generation through direct participation in the tricarboxylic acid (TCA) cycle and the malate aspartate shuttle (MAS). Inherited MDH2 deficiency is an ultra-rare metabolic disease caused by bi-allelic pathogenic variants in the MDH2 gene, resulting in early-onset encephalopathy, psychomotor delay, muscular hypotonia and frequent seizures. Currently, there is no cure for this devastating disease. We recently reported symptomatic improvement of a three-year-old girl with MDH2 deficiency following treatment with the triglyceride triheptanoin...
June 2024: Molecular Genetics and Metabolism Reports
https://read.qxmd.com/read/38422816/generation-of-induced-pluripotent-stem-cells-ucli024-a-from-a-patient-with-argininosuccinate-lyase-deficiency-carrying-a-homozygous-c-437g%C3%A2-%C3%A2-a-p-arg146gln-mutation
#30
JOURNAL ARTICLE
Claire Duff, Madeha Islam, Onelia Gagliano, Hema Pramod, Hassan Rashidi, Manju Kurian, Paul Gissen, Julien Baruteau
Argininosuccinic aciduria (ASA) is a rare inherited metabolic disease caused by argininosuccinate lyase (ASL) deficiency. Patients with ASA present with hyperammonaemia due to an impaired urea cycle pathway in the liver, and systemic disease with epileptic encephalopathy, chronic liver disease, and arterial hypertension. A human induced pluripotent stem cell (iPSC) line from the fibroblasts of a patient with ASA with homozygous pathogenic c.437G > A mutation of hASL was generated. Characterization of the cell line demonstrated pluripotency, differentiation potential and normal karyotype...
February 28, 2024: Stem Cell Research
https://read.qxmd.com/read/38421058/nucleotide-metabolism-leukodystrophies-and-cns-pathology
#31
JOURNAL ARTICLE
Francesco Gavazzi, Carlos Dominguez Gonzalez, Kaley Arnold, Meghan Swantkowski, Lauren Charlton, Nicholson Modesti, Asif A Dar, Adeline Vanderver, Mariko Bennett, Laura A Adang
The balance between a protective and a destructive immune response can be precarious, as exemplified by inborn errors in nucleotide metabolism. This class of inherited disorders, which mimics infection, can result in systemic injury and severe neurologic outcomes. The most common of these disorders is Aicardi Goutières syndrome (AGS). AGS results in a phenotype similar to "TORCH" infections (Toxoplasma gondii, Other [Zika virus (ZIKV), human immunodeficiency virus (HIV)], Rubella virus, human Cytomegalovirus [HCMV], and Herpesviruses), but with sustained inflammation and ongoing potential for complications...
February 29, 2024: Journal of Inherited Metabolic Disease
https://read.qxmd.com/read/38420906/loss-of-function-variants-in-ubap1l-cause-autosomal-recessive-retinal-degeneration
#32
JOURNAL ARTICLE
Ji Hoon Han, Kim Rodenburg, Tamar Hayman, Giacomo Calzetti, Karolina Kaminska, Mathieu Quinodoz, Molly Marra, Sandrine Wallerich, Gilad Allon, Zoltán Z Nagy, Krisztina Knézy, Yumei Li, Rui Chen, Mirella Telles Salgueiro Barboni, Paul Yang, Mark E Pennesi, L Ingeborgh van den Born, Balázs Varsányi, Viktória Szabó, Dror Sharon, Eyal Banin, Tamar Ben-Yosef, Susanne Roosing, Robert K Koenekoop, Carlo Rivolta
PURPOSE: Inherited retinal diseases (IRDs) are a group of monogenic conditions that can lead to progressive blindness. Their missing heritability is still considerable, due in part to the presence of disease genes that await molecular identification. The purpose of this work was to identify novel genetic associations with IRDs. METHODS: Patients underwent a comprehensive ophthalmological evaluation using standard-of-care tests, such as detailed retinal imaging (macular OCT, short-wavelength fundus autofluorescence) and electrophysiological testing...
February 26, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/38417938/late-onset-mitochondrial-encephalopathy-with-lactic-acidosis-and-stroke-like-episodes-and-the-role-of-serial-imaging
#33
JOURNAL ARTICLE
Robert Ambrogetti, Ethan Kavanagh, Khalid ElTayeb
Mitochondria are essential for human metabolic function. Over 350 genetic mutations are associated with mitochondrial diseases, which are inherited in a matrilineal fashion. In mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), defective mitochondrial function and resultant impaired cellular energy production compromise vascular perfusion in affected tissues. Early diagnostic criteria suggested the diagnosis should be considered in those under 40. However, a broader range of phenotypes are now recognised, including those that present for the first time later in life...
February 27, 2024: BMJ Case Reports
https://read.qxmd.com/read/38416643/identifying-potential-dietary-treatments-for-inherited-metabolic-disorders-using-drosophila-nutrigenomics
#34
JOURNAL ARTICLE
Felipe Martelli, Jiayi Lin, Sarah Mele, Wendy Imlach, Oguz Kanca, Christopher K Barlow, Jefferson Paril, Ralf B Schittenhelm, John Christodoulou, Hugo J Bellen, Matthew D W Piper, Travis K Johnson
Inherited metabolic disorders are a group of genetic conditions that can cause severe neurological impairment and child mortality. Uniquely, these disorders respond to dietary treatment; however, this option remains largely unexplored because of low disorder prevalence and the lack of a suitable paradigm for testing diets. Here, we screened 35 Drosophila amino acid disorder models for disease-diet interactions and found 26 with diet-altered development and/or survival. Using a targeted multi-nutrient array, we examine the interaction in a model of isolated sulfite oxidase deficiency, an infant-lethal disorder...
February 27, 2024: Cell Reports
https://read.qxmd.com/read/38415376/multiomics-evaluation-of-human-ipscs-and-ipsc-derived-neurons
#35
JOURNAL ARTICLE
Gwang Bin Lee, Wan Nur Atiqah Binti Mazli, Ling Hao
Human induced pluripotent stem cells (iPSCs) can be differentiated into neurons, providing living human neurons to model brain diseases. However, it is unclear how different types of molecules work together to regulate stem cell and neuron biology in healthy and disease states. In this study, we conducted integrated proteomics, lipidomics, and metabolomics analyses with confident identification, accurate quantification, and reproducible measurements to compare the molecular profiles of human iPSCs and iPSC-derived neurons...
February 28, 2024: Journal of Proteome Research
https://read.qxmd.com/read/38414634/the-contribution-of-preclinical-magnetic-resonance-imaging-and-spectroscopy-to-huntington-s-disease
#36
REVIEW
Jean-Baptiste Pérot, Emmanuel Brouillet, Julien Flament
Huntington's disease is an inherited disorder characterized by psychiatric, cognitive, and motor symptoms due to degeneration of medium spiny neurons in the striatum. A prodromal phase precedes the onset, lasting decades. Current biomarkers include clinical score and striatal atrophy using Magnetic Resonance Imaging (MRI). These markers lack sensitivity for subtle cellular changes during the prodromal phase. MRI and MR spectroscopy offer different contrasts for assessing metabolic, microstructural, functional, or vascular alterations in the disease...
2024: Frontiers in Aging Neuroscience
https://read.qxmd.com/read/38411040/ciao1-and-mms19-deficiency-a-lethal-neurodegenerative-phenotype-caused-by-cytosolic-fe-s-cluster-protein-assembly-disorders
#37
JOURNAL ARTICLE
Clara D M van Karnebeek, Maja Tarailo-Graovac, René Leen, Rutger Meinsma, Solenne Correard, Judith Jansen-Meijer, Sergey V Prykhozhij, Izabella A Pena, Kevin Ban, Sarah Schock, Vishal Saxena, Mia L Pras-Raves, Britt I Drögemöller, Anita E Grootemaat, Nicole N van der Wel, Doreen Dobritzsch, Winfried Roseboom, Bauke V Schomakers, Yorrick R J Jaspers, Lida Zoetekouw, Jeroen Roelofsen, Carlos R Ferreira, Robin van der Lee, Colin J Ross, Jakub Kochan, Rebecca L McIntyre, Jan B van Klinken, Michel van Weeghel, Gertjan Kramer, Bernhard Weschke, Philippe Labrune, Michèl A Willemsen, Daria Riva, Barbara Garavaglia, John B Moeschler, James J Filiano, Marc Ekker, Jason N Berman, David Dyment, Frédéric M Vaz, Wyeth W Wassermann, Riekelt H Houtkooper, André B P van Kuilenburg
The functionality of many cellular proteins depends on cofactors, yet they have only been implicated in a minority of Mendelian diseases. Here, we describe the first two inherited disorders of the cytosolic iron-sulfur protein assembly system METHODS: Genetic testing via genome sequencing was applied to identify the underlying disease cause in 3 patients with microcephaly, congenital brain malformations, progressive developmental and neurologic impairments, recurrent infections, and a fatal outcome. Studies in patient-derived skin fibroblasts and zebrafish models were performed to investigate the biochemical and cellular consequences RESULTS: Metabolic analysis showed elevated uracil and thymine levels in body fluids but no pathogenic variants in DPYD...
February 24, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/38408363/from-skin-lesions-to-tyrosinemia-type-ii-diagnosis
#38
JOURNAL ARTICLE
Inês S F da Silva, Inês Sopa, Daniel Gomes, Lígia Peixoto, Anabela Oliveira
No abstract text is available yet for this article.
February 26, 2024: Journal of Inherited Metabolic Disease
https://read.qxmd.com/read/38405530/development-of-a-new-amperometric-biosensor-for-measurement-of-plasma-galactose-levels
#39
JOURNAL ARTICLE
Erhan Canbay, Ebru Sezer, Ebru Canda, Havva Yazıcı, Sema Kalkan Uçar, Mahmut Çoker, Eser Yildirim Sözmen
Galactosemia is an inherited disease that occurs as a result of insufficient or no synthesis of some enzymes (GALT, GALK, and GALE) in galactose metabolism. Failure to make an early diagnosis, especially in newborns, can lead to severe clinical and even fatal consequences. The aim of this study is to develop a biosensor for measuring free galactose in plasma. The immobilization components of the developed free galactose biosensor are screen printed carbon electrode (SCPE), Prussian blue (PB), chitosan (CHIT), Nafion (NAF), gold nanoparticle (GNP), and galactose oxidase (GaOX)...
February 20, 2024: ACS Omega
https://read.qxmd.com/read/38401937/uplc-orbitrap-hrms-application-for-analysis-of-plasma-sterols
#40
JOURNAL ARTICLE
Maria van der Ham, Johan Gerrits, Berthil Prinsen, Peter van Hasselt, Sabine Fuchs, Judith Jans, Anke Willems, Monique de Sain-van der Velden
Correct identification and quantification of different sterol biomarkers can be used as a first-line diagnostic approach for inherited metabolic disorders (IMD). The main drawbacks of current methodologies are related to lack of selectivity and sensitivity for some of these compounds. To address this, we developed and validated two sensitive and selective assays for quantification of six cholesterol biosynthesis pathway intermediates (total amount (free and esterified form) of 7-dehydrocholesterol (7-DHC), 8-dehydrocholesterol (8-DHC), desmosterol, lathosterol, lanosterol and cholestanol), two phytosterols (total amount (free and esterified form) of campesterol and sitosterol) and free form of two oxysterols (7-ketocholesterol (7-KC) and 3β,5α,6β-cholestane-triol (C-triol)...
April 1, 2024: Analytica Chimica Acta
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