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Molecular Genetics and Metabolism Reports

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https://www.readbyqxmd.com/read/29744303/recurrent-rhabdomyolysis-caused-by-carnitine-palmitoyltransferase-ii-deficiency-common-but-under-recognised-lessons-to-be-learnt
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
https://www.readbyqxmd.com/read/29387561/high-incidence-of-low-vitamin-b12-levels-in-estonian-newborns
#8
Karit Reinson, Kadi Künnapas, Annika Kriisa, Mari-Anne Vals, Kai Muru, Katrin Õunap
Vitamin B12 deficiency seems to be more common worldwide than previously thought. However, only a few reports based on data from newborn screening (NBS) programs have drawn attention to that subject. In Estonia, over the past three years, we have diagnosed 14 newborns with congenital acquired vitamin B12 deficiency. Therefore, the incidence of that condition is 33.8/100,000 live births, which is considerably more than previously believed. None of the newborns had any clinical symptoms associated with vitamin B12 deficiency before the treatment, and all biochemical markers normalized after treatment, which strongly supports the presence of treatable congenital deficiency of vitamin B12...
June 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29326880/blood-phenylalanine-instability-strongly-correlates-with-anxiety-in-phenylketonuria
#9
Bozena Didycz, Miroslaw Bik-Multanowski
We assessed the relationship between anxiety and long-term metabolic control in adolescents with phenylketonuria (PKU). We used a standardized psychological test to measure anxiety level and analyzed lifelong blood phenylalanine stability in a selected group of 25 PKU teenagers with treatment adherence problems. We demonstrated significant correlations of anxiety with variability of blood phenylalanine concentrations and with severity of hyperphenylalaninemia. Avoiding blood phenylalanine fluctuations in childhood can probably reduce anxiety in PKU adolescents...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29326879/characteristics-of-26-patients-with-type-3-gaucher-disease-a-descriptive-analysis-from-the-gaucher-outcome-survey
#10
Ida Vanessa D Schwartz, Özlem Göker-Alpan, Priya S Kishnani, Ari Zimran, Lydie Renault, Zoya Panahloo, Patrick Deegan
The Gaucher Outcome Survey (GOS) is an international disease-specific registry established in 2010 for patients with a confirmed diagnosis of Gaucher disease (GD), regardless of GD type or treatment status. Historically, there has been a limited understanding of type 3 GD (GD3) and its natural history in patients irrespective of their treatment status. Here, we describe the disease characteristics of patients with GD3 enrolled in GOS. As of October 2015, 1002 patients had been enrolled, 26 of whom were reported as GD3...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29326878/ten-year-long-enzyme-replacement-therapy-shows-a-poor-effect-in-alleviating-giant-leg-ulcers-in-a-male-with-fabry-disease
#11
Jun Okada, Mohammad Arif Hossain, Chen Wu, Takashi Miyajima, Hiroko Yanagisawa, Keiko Akiyama, Yoshikatsu Eto
Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A (α-gal A), leading to the progressive accumulation of glycosphingolipids. Classical hemizygous males usually present symptoms, including pain and paresthesia in the extremities, angiokeratoma, hypo- or anhidrosis, abdominal pain, cornea verticillata, early stroke, tinnitus, and/or hearing loss, during early childhood or adolescence. Moreover, proteinuria, renal impairment, and cardiac hypertrophy can appear with age...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29326877/natural-history-of-morquio-a-patient-with-tracheal-obstruction-from-birth-to-death
#12
Caitlin Doherty, Lauren W Averill, Mary Theroux, William G Mackenzie, Christian Pizarro, Robert W Mason, Shunji Tomatsu
Morquio A syndrome (mucopolysaccharidosis IVA, MPS IVA) is a lysosomal storage disease caused by a deficiency of N -acetylgalactosamine-6-sulfate sulfatase, resulting in systemic accumulation of the partially degraded glycosaminoglycans (GAGs), keratan sulfate and chondroitin-6-sulfate. The accumulation of these GAGs leads to distinguishing features as skeletal dysplasia with disproportionate dwarfism, short neck, kyphoscoliosis, pectus carinatum, tracheal obstruction, coxa valga, genu valgum, and joint laxity...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29326876/mildly-elevated-succinylacetone-and-normal-liver-function-in-compound-heterozygotes-with-pathogenic-and-pseudodeficient-fah-alleles
#13
Hao Yang, Francis Rossignol, Denis Cyr, Rachel Laframboise, Shu Pei Wang, Jean-François Soucy, Marie-Thérèse Berthier, Yves Giguère, Paula J Waters, Grant A Mitchell
Background: A high level of succinylacetone (SA) in blood is a sensitive, specific marker for the screening and diagnosis of hepatorenal tyrosinemia (HT1, MIM 276700). HT1 is caused by mutations in the FAH gene, resulting in deficiency of fumarylacetoacetate hydrolase. HT1 newborns are usually clinically asymptomatic, but have coagulation abnormalities revealing liver dysfunction. Treatment with nitisinone (NTBC) plus dietary restriction of tyrosine and phenylalanine prevents the complications of HT1...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29326875/homocystinuria-due-to-cystathionine-beta-synthase-cbs-deficiency-in-russia-molecular-and-clinical-characterization
#14
Elena Voskoboeva, Alla Semyachkina, Maria Yablonskaya, Ekaterina Nikolaeva
We present the results of the 45-year clinical observation of 27 Russian homocystinuria patients. We made a mutation analysis of the CBS gene for thirteen patients from eleven unrelated genealogies. All patients except for the two were compound heterozygotes for the mutations detected. The most frequent mutation in the cohort investigated was splice mutation IVS11-2a->c. We detected one new nonsense mutation, one new missense-mutation and three novel small deletions. We also report the clinical case of the B6 -responsive patient genotyped as Ile278Thr/Cys109Arg...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29326874/only-some-patients-with-bulbar-and-spinal-muscular-atrophy-may-develop-cardiac-disease
#15
Josef Finsterer, Claudia Stöllberger
Objectives: According to recent publications, some patients with spinal and bulbar muscular atrophy (BSMA) develop cardiac disease, manifesting as ST-segment abnormalities, Brugada-syndrome, dilative cardiomyopathy, or sudden cardiac death. Here we present neurological and cardiac data of a BSMA patient who was followed up for 10 y. Case report: In a male patient aged 47 y, BSMA was diagnosed at age 37 y upon the typical clinical presentation (postural tremor since age 12 y, dysarthria since age 15 y, muscle cramps since age 29 y, general myalgias since age 32 y, general fasciculations since age 34 y, myoclonic jerks, easy fatigability, dyspnea upon exercise since age 36 y) and a CAG-repeat expansion of 47 ± 1 repeats in the androgen-receptor gene detected at age 37 y...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29326873/motor-involvement-in-fabry-disease
#16
Sirio Cocozza, Lorenzo Ugga, Giuseppe Pontillo, Camilla Russo, Enrico Tedeschi, Antonio Pisani, Arturo Brunetti
No abstract text is available yet for this article.
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29326872/phenotypic-spectrum-of-fars2-deficiency
#17
Josef Finsterer, Carla A Scorza, Fulvio A Scorza
No abstract text is available yet for this article.
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29326871/quantification-of-the-enzyme-activities-of-iduronate-2-sulfatase-n-acetylgalactosamine-6-sulfatase-and-n-acetylgalactosamine-4-sulfatase-using-liquid-chromatography-tandem-mass-spectrometry
#18
Ryuichi Mashima, Mari Ohira, Torayuki Okuyama, Akiya Tatsumi
Mucopolysaccharidosis (MPS) is a genetic disorder characterized by the accumulation of glycosaminoglycans in the body. Of the multiple MPS disease subtypes, several are caused by defects in sulfatases. Specifically, a defect in iduronate-2-sulfatase (ID2S) leads to MPS II, whereas N -acetylgalactosamine-6-sulfatase (GALN) and N -acetylgalactosamine-4-sulfatase (ARSB) defects relate to MPS IVA and MPS VI, respectively. A previous study reported a combined assay for these three disorders in a 96-well plate using a liquid chromatography-tandem mass spectrometry (LC-MS/MS)-based technique (Kumar et al...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29159077/long-term-outcomes-with-agalsidase-alfa-enzyme-replacement-therapy-analysis-using-deconstructed-composite-events
#19
Michael Beck, Derralynn Hughes, Christoph Kampmann, Guillem Pintos-Morell, Uma Ramaswami, Michael L West, Roberto Giugliani
This is a retrospective analysis of Fabry Outcome Survey data from children/adults ( n  = 677) receiving agalsidase alfa enzyme replacement therapy for a median of 3 years, examining cerebrovascular, cardiac, and renal morbidity endpoints separately. Cardiac events occurred at younger ages than cerebrovascular or renal events, cerebrovascular events were more frequent in females than males, and males were more likely to experience cardiac and renal events at a younger age than females.
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29159076/parkinson-s-disease-prevalence-in-fabry-disease-a-survey-study
#20
Adina H Wise, Amy Yang, Hetanshi Naik, Chanan Stauffer, Natasha Zeid, Christopher Liong, Manisha Balwani, Robert J Desnick, Roy N Alcalay
Recent research has suggested a possible link between Parkinson's disease (PD) and Fabry disease. To test this relationship, we administered a self-report and family history questionnaire to determine the prevalence of PD in Fabry disease patients and family members with likely pathogenic alpha-galactosidase A (GLA) mutations. A total of 90 Fabry patients (77 from the online survey and 13 from the Icahn School of Medicine at Mount Sinai (ISMMS)) were included in the analysis. Two of the Fabry disease patients who completed the online survey were diagnosed with PD (2/90, 2...
March 2018: Molecular Genetics and Metabolism Reports
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