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Molecular Genetics and Metabolism Reports

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https://www.readbyqxmd.com/read/30013935/long-term-outcomes-in-amish-patients-diagnosed-with-propionic-acidemia
#1
Jessica Scott Schwoerer, Sarah Clowes Candadai, Patrice K Held
Propionic acidemia (PA) occurs at a higher incidence within the Amish; however, sensitivity of newborn screening and its impact on long-term clinical outcomes has not been reported in this population. This study reviewed screening data and health records of 20 Wisconsin Amish patients diagnosed with PA. Newborn screening did not identify all cases; however, early detection did offer appreciable long-term protection from neurological sequelae. This is the first report summarizing PA cases within the Amish.
September 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30013934/neurocognitive-assessments-and-long-term-outcome-in-an-adult-with-2-methyl-3-hydroxybutyryl-coa-dehydrogenase-deficiency
#2
Karolina M Stepien, Philomena McCarthy, Eileen P Treacy, James J O'Byrne, Gregory M Pastores
Background: 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBDD) is a rare X-linked disorder associated with the accumulation of 2-methyl-3-hydroxybutyric acid in body fluids as a consequence of a disruption in isoleucine metabolism. The clinical presentation is heterogeneous, including a neurodegenerative course with retinopathy and cardiomyopathy leading to death in early childhood and a slowly progressive disease associated with learning disability and survival into adulthood...
September 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30013933/extra-muscular-manifestations-of-tk2-deficiency
#3
Ayman W El-Hattab, Julia Wang, Lee-Jun Wong
No abstract text is available yet for this article.
September 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29992091/response-to-finsterer-cpt-ii-deficiency-needs-to-be-detected-in-army-personnel
#4
M Balasubramanian, T M Jenkins, R J Kirk, I M Nesbitt, S E Olpin, M Hill, G T Gillett
No abstract text is available yet for this article.
September 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29988937/the-impact-of-common-genetic-variants-in-the-mitochondrial-glycine-cleavage-system-on-relevant-metabolites
#5
Jessica O'Reilly, Faith Pangilinan, Karsten Hokamp, Per M Ueland, John T Brosnan, Margaret E Brosnan, Lawrence C Brody, Anne M Molloy
The glycine cleavage system (GCS) is a complex of four enzymes enabling glycine to serve as a source of one-carbon units to the cell. We asked whether concentrations of glycine, dimethylglycine, formate, and serine in blood are influenced by variation within GCS genes in a sample of young, healthy individuals. Fifty-two variants tagging (r2  < 0.9) the four GCS genes were tested; one variant, GLDC rs2297442-G, was significantly associated ( p  = .0007) with decreased glycine concentrations in serum...
September 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29988809/novel-etfdh-mutations-in-four-cases-of-riboflavin-responsive-multiple-acyl-coa-dehydrogenase-deficiency
#6
Xin Fan, Bobo Xie, Jun Zou, Jingsi Luo, Zailong Qin, Alissa M D'Gama, Jiahai Shi, Shang Yi, Qi Yang, Jin Wang, Shiyu Luo, Shaoke Chen, Pankaj B Agrawal, Qifei Li, Yiping Shen
Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder of fatty acid, amino acid, and choline metabolism caused by mutations in EFTA, EFTB, or ETFDH . Many MADD patients are responsive to treatment with riboflavin, termed riboflavin-responsive MADD (RR-MADD). Here, we report three novel mutations and one previously reported mutation in ETFDH in four RR-MADD patients who presented at various ages, and characterize the corresponding changes in ETF-QO protein structure. Clinicians should consider MADD in the differential diagnosis when patients present with muscle weakness and biochemical abnormalities...
September 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29988795/tk2-related-mitochondrial-disorder-is-not-restricted-to-the-skeletal-muscle
#7
Josef Finsterer, Fulvio A Scorza, Ana C Fiorini, Antonio-Carlos G de Almeida, Carla A Scorza
No abstract text is available yet for this article.
September 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29946515/cpt-ii-deficiency-needs-to-be-detected-in-army-personnel
#8
Josef Finsterer
No abstract text is available yet for this article.
September 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29946514/diversity-in-the-incidence-and-spectrum-of-organic-acidemias-fatty-acid-oxidation-disorders-and-amino-acid-disorders-in-asian-countries-selective-screening-vs-expanded-newborn-screening
#9
Naoaki Shibata, Yuki Hasegawa, Kenji Yamada, Hironori Kobayashi, Jamiyan Purevsuren, Yanling Yang, Vu Chi Dung, Nguyen Ngoc Khanh, Ishwar C Verma, Sunita Bijarnia-Mahay, Dong Hwan Lee, Dau-Ming Niu, Georg F Hoffmann, Yosuke Shigematsu, Toshiyuki Fukao, Seiji Fukuda, Takeshi Taketani, Seiji Yamaguchi
Background: Expanded newborn screening (ENBS) utilizing tandem mass spectrometry (MS/MS) for inborn metabolic diseases (IMDs), such as organic acidemias (OAs), fatty acid oxidation disorders, (FAODs), and amino acid disorders (AAs), is increasingly popular but has not yet been introduced in many Asian countries. This study aimed to determine the incidence rates of OAs, FAODs, and AAs in Asian countries and Germany using selective screening and ENBS records. Materials and methods: Selective screening for IMDs using gas chromatography-mass spectrometry and MS/MS was performed among patients suspected to be afflicted in Asian countries (including Japan, Vietnam, China, and India) between 2000 and 2015, and the results from different countries were compared...
September 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29946513/pompe-disease-treatment-with-twice-a-week-high-dose-alglucoside-alfa-in-a-patient-with-severe-dilated-cardiomyopathy
#10
Jesa L Landis, Holly Hyland, Steven J Kindel, Ann Punnoose, Gabrielle C Geddes
There is limited information regarding ideal dosage of alglucoside alfa in patients with Infantile Onset Pompe Disease (IOPD). The U.S. Food and Drug Administration approved alglucoside alfa at dosing of 20 mg/kg every other week, but there are small studies and case reports suggesting that dosing higher than this leads to improved ventilator free survival and development without adverse events. We review the clinical course and short term clinical outcomes one year following late diagnosis of IOPD in a 3 month old who presented severely affected and was treated with 40 mg/kg twice a week for 21 infusions until six months of age then transitioned to 40 mg/kg/week...
September 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29922587/-de-novo-atp1a3-and-compound-heterozygous-nlrp3-mutations-in-a-child-with-autism-spectrum-disorder-episodic-fatigue-and-somnolence-and-muckle-wells-syndrome
#11
Alcy Torres, Catherine A Brownstein, Sahil K Tembulkar, Kelsey Graber, Casie Genetti, Robin J Kleiman, Kathleen J Sweadner, Chrystal Mavros, Kevin X Liu, Niklas Smedemark-Margulies, Kiran Maski, Edward Yang, Pankaj B Agrawal, Jiahai Shi, Alan H Beggs, Eugene D'Angelo, Sarah Hope Lincoln, Devon Carroll, Fatma Dedeoglu, William A Gahl, Catherine M Biggs, Kathryn J Swoboda, Gerard T Berry, Joseph Gonzalez-Heydrich
Complex phenotypes may represent novel syndromes that are the composite interaction of several genetic and environmental factors. We describe an 9-year old male with high functioning autism spectrum disorder and Muckle-Wells syndrome who at age 5  years of age manifested perseverations that interfered with his functioning at home and at school. After age 6, he developed intermittent episodes of fatigue and somnolence lasting from hours to weeks that evolved over the course of months to more chronic hypersomnia...
September 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30009132/effectiveness-of-whole-exome-sequencing-in-unsolved-patients-with-a-clinical-suspicion-of-a-mitochondrial-disorder-in-estonia
#12
Sanna Puusepp, Karit Reinson, Sander Pajusalu, Ülle Murumets, Eve Õiglane-Shlik, Reet Rein, Inga Talvik, Richard J Rodenburg, Katrin Õunap
Objective: Reaching a genetic diagnosis of mitochondrial disorders (MDs) is challenging due to their broad phenotypic and genotypic heterogeneity. However, there is growing evidence that the use of whole exome sequencing (WES) for diagnosing patients with a clinical suspicion of an MD is effective (39-60%). We aimed to study the effectiveness of WES in clinical practice in Estonia, in patients with an unsolved, but suspected MD. We also show our first results of mtDNA analysis obtained from standard WES reads...
June 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29845015/risks-of-long-term-port-use-in-enzyme-replacement-therapy-for-lysosomal-storage-disorders
#13
Christian J Hendriksz, Paul Harmatz, Roberto Giugliani, Jane Roberts, G Suren Arul
Totally implantable vascular access devices (TIVADs) are commonly used in conjunction with enzyme replacement therapy (ERT) for lysosomal storage disorders (LSDs). This case series describes potential complications associated with long-term TIVAD use, such as compromise of skin integrity, infection, or port failures. Best practices and skilled specialists are essential for minimizing complications from long-term TIVAD use for ERT.
June 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29744303/recurrent-rhabdomyolysis-caused-by-carnitine-palmitoyltransferase-ii-deficiency-common-but-under-recognised-lessons-to-be-learnt
#14
M Balasubramanian, T M Jenkins, R J Kirk, I M Nesbitt, S E Olpin, M Hill, G T Gillett
We discuss two adult siblings who presented with symptoms of myalgia and rhabdomyolysis following exercise with myoglobinuria; genetic testing confirmed carnitine palmitoyltransferase II deficiency and resulted in institution of appropriate crisis management and dietary advice. We explore the phenotypic variability of this commonest fatty oxidation defect that remains under-diagnosed in the adult population and provide clues for early recognition and diagnosis.
June 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29560317/the-promoter-region-of-46-kda-cnpase-is-sufficient-for-its-expression-in-corpus-callosum
#15
Yuki Miyamoto, Tomohiro Torii, Akito Tanoue, Masahiro Yamamoto, Junji Yamauchi
No abstract text is available yet for this article.
June 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29560316/genotypes-of-patients-with-phenylalanine-hydroxylase-deficiency-in-the-wisconsin-amish
#16
Jessica Scott Schwoerer, Nicoletta Drilias, Ashley Kuhl, Sean Mochal, Mei Baker
In the Plain Community, there is an increased frequency of genetic disorders including phenylalanine hydroxylase (PAH) deficiency. Common pathogenic variants have been observed due to founder effect and closed community. This study obtained genotypes of 12 Plain individuals with PAH deficiency, identified through newborn screen or diagnosed by symptomatic presentation, who are receiving medical care at the University of Wisconsin metabolic clinic. Genotype and phenotypic data were evaluated to characterize genotype-phenotype correlations...
June 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29560315/microvascular-endothelial-dysfunction-in-mitochondrial-stroke-like-episodes-supports-use-of-intravenous-l-arginine
#17
Rebecca D Ganetzky, Marni J Falk
No abstract text is available yet for this article.
June 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29552495/clinicopathological-features-associated-with-the-bag3-pro209leu-mutation
#18
A Schänzer, S Rupp, B Garvalov, A Hahn
No abstract text is available yet for this article.
June 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29552494/open-label-clinical-trial-of-bezafibrate-treatment-in-patients-with-fatty-acid-oxidation-disorders-in-japan
#19
Kenji Yamada, Hideaki Shiraishi, Eishin Oki, Mika Ishige, Toshiyuki Fukao, Yusuke Hamada, Norio Sakai, Fumihiro Ochi, Asami Watanabe, Sanae Kawakami, Kazuyo Kuzume, Kenji Watanabe, Koji Sameshima, Kiyotaka Nakamagoe, Akira Tamaoka, Naoko Asahina, Saki Yokoshiki, Takashi Miyakoshi, Kota Ono, Koji Oba, Toshiyuki Isoe, Hiroshi Hayashi, Seiji Yamaguchi, Norihiro Sato
Introduction: Fatty acid oxidation disorders (FAODs) are rare diseases caused by defects in mitochondrial fatty acid oxidation (FAO) enzymes. While the efficacy of bezafibrate, a peroxisome proliferator-activated receptor agonist, on the in vitro FAO capacity has been reported, the in vivo efficacy remains controversial. Therefore, we conducted a clinical trial of bezafibrate in Japanese patients with FAODs. Materials and methods: This trial was an open-label, non-randomized, and multicenter study of bezafibrate treatment in 6 patients with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency and 2 patients with carnitine palmitoyltransferase-II (CPT-2) deficiency (median age, 8...
June 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29387562/the-impact-of-consanguinity-on-the-frequency-of-inborn-errors-of-metabolism
#20
Raja Majid Afzal, Allan Meldgaard Lund, Flemming Skovby
Inborn errors of metabolism (IEM) are a heterogeneous group of genetic disorders present in all ethnic groups. We investigated the frequency of consanguinity among parents of newborns with IEM diagnosed by neonatal screening. Data were obtained from 15 years of expanded newborn screening for selected IEM with autosomal recessive mode of inheritance, a national screening program of newborns covering the period from 2002 until April 2017. Among the 838,675 newborns from Denmark, the Faroe Islands and Greenland, a total of 196 newborns had an IEM of whom 155 from Denmark were included in this study...
June 2018: Molecular Genetics and Metabolism Reports
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