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Molecular Genetics and Metabolism Reports

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https://read.qxmd.com/read/30963030/the-evaluation-of-phenylalanine-levels-in-estonian-phenylketonuria-patients-during-eight-years-by-electronic-laboratory-records
#1
Hardo Lilleväli, Karit Reinson, Kai Muru, Siret Saarsalu, Kadi Künnapas, Tiina Kahre, Ülle Murumets, Katrin Õunap
Blood phenylalanine (Phe) values from the dried blood spots of all Estonian phenylketonuria (PKU) patients have been deposited into a unified electronic laboratory database for eight years, providing an opportunity to assess the adherence of the patients to dietary recommendations over time and to observe patient practices both individually and collectively. Our results demonstrate generally good adherence to clinical and dietary recommendations during the first six years of life, as the percentage of patients with median Phe values fitting under the national recommendation levels were 95%, 84% and 70% in age groups 0-1, 1-2 and 2-6 years, respectively...
June 2019: Molecular Genetics and Metabolism Reports
https://read.qxmd.com/read/30963029/home-delivery-service-of-low-protein-foods-in-inherited-metabolic-disorders-does-it-help
#2
A MacDonald, A Pinto, S Evans, C Ashmore, J MacDonald, A Daly
Background: In the UK, the customary method of obtaining special low protein (LP) foods was by dispensing through a pharmacist (until 2010) for patients with inherited metabolic disorders (IMD) requiring LP diets. Recently, different home delivery services have been introduced to support patient access of low protein foods, but the effectiveness of these services is unclear. Aim: A prospective, longitudinal, observational study to examine the effectiveness and safety of patient home delivery services for LP foods over 12 months in IMD patients requiring a LP diet...
June 2019: Molecular Genetics and Metabolism Reports
https://read.qxmd.com/read/30963028/identification-of-an-iron-responsive-subtype-in-two-children-diagnosed-with-relapsing-remitting-multiple-sclerosis-using-whole-exome-sequencing
#3
Susan J van Rensburg, Armand V Peeters, Ronald van Toorn, Johan Schoeman, Kelebogile E Moremi, Carel J van Heerden, Maritha J Kotze
Background: Multiple sclerosis is a disorder related to demyelination of axons. Iron is an essential cofactor in myelin synthesis. Previously, we described two children (males of mixed ancestry) with relapsing-remitting multiple sclerosis (RRMS) where long-term remission was achieved by regular iron supplementation. A genetic defect in iron metabolism was postulated, suggesting that more advanced genetic studies could shed new light on disease pathophysiology related to iron. Methods: Whole exome sequencing (WES) was performed to identify causal pathways...
June 2019: Molecular Genetics and Metabolism Reports
https://read.qxmd.com/read/30956948/pulmonary-hypertension-may-be-secondary-in-carriers-of-compound-heterozygous-foxred1-variants
#4
Josef Finsterer
No abstract text is available yet for this article.
June 2019: Molecular Genetics and Metabolism Reports
https://read.qxmd.com/read/30891420/next-generation-sequencing-for-clinical-diagnostics-five-year-experience-of-an-academic-laboratory
#5
Paige Hartman, Kenneth Beckman, Kevin Silverstein, Sophia Yohe, Matthew Schomaker, Christine Henzler, Getiria Onsongo, Ham Ching Lam, Sarah Munro, Jerry Daniel, Bradley Billstein, Archana Deshpande, Adam Hauge, Pawel Mroz, Whiwon Lee, Jennifer Holle, Katie Wiens, Kylene Karnuth, Teresa Kemmer, Michaela Leary, Stephen Michel, Laurie Pohlman, Venugopal Thayanithy, Andrew Nelson, Matthew Bower, Bharat Thyagarajan
Clinical laboratories have adopted next generation sequencing (NGS) as a gold standard for the diagnosis of hereditary disorders because of its analytic accuracy, high throughput, and potential for cost-effectiveness. We describe the implementation of a single broad-based NGS sequencing assay to meet the genetic testing needs at the University of Minnesota. A single hybrid capture library preparation was used for each test ordered, data was informatically blinded to clinically-ordered genes, and identified variants were reviewed and classified by genetic counselors and molecular pathologists...
June 2019: Molecular Genetics and Metabolism Reports
https://read.qxmd.com/read/30828547/a-closer-look-at-arsa-activity-in-a-patient-with-metachromatic-leukodystrophy
#6
Kathleen Doherty, S Barron Frazier, Matthew Clark, Anna Childers, Sumit Pruthi, David A Wenger, Jessica Duis
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease mainly caused by a deficiency of arylsulfatase A activity. The typical clinical course of patients with the late infantile form includes a regression in motor skills with progression to dysphagia, seizures, hypotonia and death. We present a case of a 4-year-old female with rapidly progressive developmental regression with loss of motor milestones, spasticity and dysphagia. MRI showed volume loss and markedly abnormal deep white matter...
June 2019: Molecular Genetics and Metabolism Reports
https://read.qxmd.com/read/30828546/harderoporphyria-case-of-lifelong-photosensitivity-associated-with-compound-heterozygous-coproporphyrinogen-oxidase-cpox-mutations
#7
A Moghe, V M S Ramanujam, J D Phillips, R J Desnick, K E Anderson
A 78-year-old man with a history of neonatal anemia and jaundice and life-long photosensitivity was found to have harderoporphyria, as evidenced by increased porphyrins in urine, plasma, erythrocytes and feces including large amounts of harderoporphyrin in feces and erythrocytes. Two previously undescribed coproporphyrinogen oxidase (CPOX) mutations were identified, including a deletion of four amino acids in a region of the enzyme mutated in 7 of the 8 previously reported cases. This case increases the molecular heterogeneity of this rare porphyria, and illustrates that it should be considered as a cause of chronic photosensitivity and porphyrin elevation at any age...
June 2019: Molecular Genetics and Metabolism Reports
https://read.qxmd.com/read/30815362/the-importance-of-the-nuclear-background-on-the-phenotypic-signature-caused-by-the-melas-m-1630-a-g-variant
#8
Andrea Gropman, Anne Chiaramello
No abstract text is available yet for this article.
June 2019: Molecular Genetics and Metabolism Reports
https://read.qxmd.com/read/30815361/emotional-experience-in-parents-of-children-with-zellweger-spectrum-disorders-a-qualitative-study
#9
Mousumi Bose, Meena Mahadevan, Dana R Schules, Rory K Coleman, Kelly M Gawron, Melissa B Gamble, Jean-Baptiste Roullet, K Michael Gibson, William B Rizzo
Zellweger spectrum disorders (ZSDs) are rare, debilitating genetic diseases of peroxisome biogenesis that require constant management and lifelong care. Nevertheless, the experience of family caregivers for children diagnosed with ZSD is not well understood. In this study, we sought to characterize the emotional experience of ZSD family caregivers. Three 90-min focus groups were conducted with thirty-seven parents (25 mothers and 12 fathers) of children with ZSD during a family advocacy conference. Focus groups were arranged by age of proband (Group 1: 0-4 years, Group 2: 5-10 years, Group 3: >11 years)...
June 2019: Molecular Genetics and Metabolism Reports
https://read.qxmd.com/read/30809469/pathogenicity-of-the-m-1630a-g-variant-remains-elusive-if-related-mutation-carriers-with-similar-heteroplasmy-rates-are-asymptomatic
#10
Josef Finsterer
No abstract text is available yet for this article.
June 2019: Molecular Genetics and Metabolism Reports
https://read.qxmd.com/read/30775257/biomarkers-in-patients-with-mucopolysaccharidosis-type-ii-and-iv
#11
Honoka Fujitsuka, Kazuki Sawamoto, Hira Peracha, Robert W Mason, William Mackenzie, Hironori Kobayashi, Seiji Yamaguchi, Yasuyuki Suzuki, Kenji Orii, Tadao Orii, Toshiyuki Fukao, Shunji Tomatsu
Glycosaminoglycans (GAGs), dermatan sulfate (DS), heparan sulfate (HS), and keratan sulfate (KS), are the primary biomarkers in patients with mucopolysaccharidoses (MPS); however, little is known about other biomarkers. To explore potential biomarkers and their correlation with GAGs, blood samples were collected from 46 MPS II patients, 34 MPS IVA patients, and 5 MPS IVB patients. We evaluated the levels of 8 pro-inflammatory factors (EGF, IL-1β, IL-6, MIP-1α, TNF-α, MMP-1, MMP-2, and MMP-9), collagen type II, and DS, HS (HS0S, HSNS), and KS (mono-sulfated, di-sulfated) in blood...
June 2019: Molecular Genetics and Metabolism Reports
https://read.qxmd.com/read/30775256/the-effect-of-enzyme-replacement-therapy-on-clinical-outcomes-in-male-patients-with-fabry-disease-a-systematic-literature-review-by-a-european-panel-of-experts
#12
REVIEW
Dominique P Germain, Perry M Elliott, Bruno Falissard, Victor V Fomin, Max J Hilz, Ana Jovanovic, Ilkka Kantola, Aleš Linhart, Renzo Mignani, Mehdi Namdar, Albina Nowak, João-Paulo Oliveira, Maurizio Pieroni, Miguel Viana-Baptista, Christoph Wanner, Marco Spada
Background: Enzyme replacement therapy (ERT) with recombinant human α-galactosidase has been available for the treatment of Fabry disease since 2001 in Europe and 2003 in the USA. Treatment outcomes with ERT are dependent on baseline patient characteristics, and published data are derived from heterogeneous study populations. Methods: We conducted a comprehensive systematic literature review of all original articles on ERT in the treatment of Fabry disease published up until January 2017...
June 2019: Molecular Genetics and Metabolism Reports
https://read.qxmd.com/read/30766798/defective-neuronal-and-oligodendroglial-differentiation-by-ftd3-and-als17-associated-ile29-to-val-mutation-of-chmp2b
#13
Minami Yamawaki, Masumi Akiba, Naoto Matsumoto, Natsumi Watanabe, Kohei Hattori, Yu Takeuchi, Takako Morimoto, Hiroaki Oizumi, Katsuya Ohbuchi, Yuki Miyamoto, Junji Yamauchi
No abstract text is available yet for this article.
June 2019: Molecular Genetics and Metabolism Reports
https://read.qxmd.com/read/30740308/l-cysteine-supplementation-prevents-liver-transplantation-in-a-patient-with-trmu-deficiency
#14
Claudia Soler-Alfonso, Nishita Pillai, Erin Cooney, Krupa R Mysore, Suzanne Boyer, Fernando Scaglia
Early recognition of rare mitochondrial respiratory chain defects has become readily available with the routine use of whole exome sequencing. Patients with oxidative phosphorylation defects present with a heterogenous phenotype, often rapidly progressive, and lethal. Clinicians aim for prompt identification of the specific molecular defect to provide timely management, decrease morbidity, and potentially improve survival rates. More recently, bi-allelic pathogenic variants in the TRMU gene responsible for encoding the mitochondrial tRNA-specific 2-thiouridylase were found in a syndrome characterized by infantile hepatopathy due to a mitochondrial translation defect (OMIM# 613070)...
June 2019: Molecular Genetics and Metabolism Reports
https://read.qxmd.com/read/30740307/synergistic-heterozygosities-beyond-energy-related-metabolic-pathways-as-the-mechanism-of-recurrent-rhabdomyolysis
#15
P Phowthongkum
No abstract text is available yet for this article.
June 2019: Molecular Genetics and Metabolism Reports
https://read.qxmd.com/read/30740306/feasibility-of-cellular-bioenergetics-as-a-biomarker-in-porphyria-patients
#16
Balu Chacko, Matilda Lillian Culp, Joseph Bloomer, John Phillips, Yong-Fang Kuo, Victor Darley-Usmar, Ashwani K Singal
Porphyria is a group of metabolic disorders due to altered enzyme activities within the heme biosynthetic pathway. It is a systemic disease with multiple potential contributions to mitochondrial dysfunction and oxidative stress. Recently, it has become possible to measure mitochondrial function from cells isolated from peripheral blood (cellular bioenergetics) using the XF96 analyzer ( Seahorse Bioscience ). Mitochondrial respiration in these cells is measured with the addition of activators and inhibitors of respiration...
June 2019: Molecular Genetics and Metabolism Reports
https://read.qxmd.com/read/30733922/management-of-leigh-syndrome-due-to-ndufaf6-variants
#17
Josef Finsterer, Fulvio A Scorza
No abstract text is available yet for this article.
June 2019: Molecular Genetics and Metabolism Reports
https://read.qxmd.com/read/30733921/benefits-of-prophylactic-heme-therapy-in-severe-acute-intermittent-porphyria
#18
Pradeep Yarra, Denise Faust, Mary Bennett, Sean Rudnick, Herbert L Bonkovsky
Acute intermittent porphyria (AIP), an autosomal dominant inborn error of metabolism, is the most common and severe form of the acute porphyrias. Attacks of severe abdominal pain, often with hypertension, tachycardia, are cardinal features of AIP, often requiring hospital admissions. Frequent recurrent attacks of AIP, defined as >3 attacks in one year, during which at least one attack requires intravenous heme therapy, are associated with significant morbidity, lost productivity, and health care burden. We report two patients with such frequent attacks of AIP, who have been managed with prophylactic heme therapy on a weekly basis...
June 2019: Molecular Genetics and Metabolism Reports
https://read.qxmd.com/read/30723688/congenital-lactic-acidosis-cerebral-cysts-and-pulmonary-hypertension-in-an-infant-with-foxred1-related-complex-i-deficiency
#19
Delia Apatean, Bojana Rakic, Catherine Brunel-Guitton, Glenda Hendson, Renkui Bai, Michael A Sargent, Pascal M Lavoie, Millan Patel, Sylvia Stockler-Ipsiroglu
Mitochondrial complex I is encoded by 38 nuclear-encoded and 7 mitochondrial-encoded genes. FOXRED1 is one of the 13 additional nuclear genes known as assembly factors. So far, four patients have been described with complex I deficiency caused by autosomal recessive mutations in FOXRED1. Here, we report the fifth patient with FOXRED1 related complex 1 deficiency presenting with prenatal onset of bilateral periventricular cysts, congenital lactic acidosis, and persistent life-limiting pulmonary hypertension...
March 2019: Molecular Genetics and Metabolism Reports
https://read.qxmd.com/read/30705825/a-letter-from-brian-berman-president-national-gaucher-foundation
#20
(no author information available yet)
No abstract text is available yet for this article.
March 2019: Molecular Genetics and Metabolism Reports
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