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Molecular Genetics and Metabolism Reports

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https://www.readbyqxmd.com/read/30627514/three-cases-of-multi-generational-gaucher-disease-and-colon-cancer-from-an-ashkenazi-jewish-family-a-lesson-for-cascade-screening
#1
Fady Hannah-Shmouni, Dominick Amato
Gaucher disease (GD) is one of the commonest lysosomal storage diseases that is inherited in an autosomal recessive manner and affects 1 in 50,000 to 100,000 people in the general population. The frequency is much higher (1 in 500 to 1000) in people of Ashkenazi Jewish heritage due to a founder effect. GD is caused by decreased or absent activity of β-glucosidase with subsequent accumulation of the substrate glucosylceramide in macrophages due to genetic alterations in the GBA gene. These often accumulate in the spleen, liver and bone marrow...
March 2019: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30619714/untargeted-metabolomics-identifies-unique-though-benign-biochemical-changes-in-patients-with-pathogenic-variants-in-uroc1
#2
Kevin E Glinton, Harvey L Levy, Adam D Kennedy, Kirk L Pappan, Sarah H Elsea
Urocanic aciduria is caused by a deficiency in the enzyme urocanase (E.C. 4.2.1.49) encoded by the gene UROC1 . In the past, deficiency of urocanase has been associated with intellectual disability in a few case studies with some suggestion that the enzyme deficiency was the causative etiology. Here, we describe two phenotypically normal siblings with compound heterozygous pathogenic variants in UROC1 and characteristic biochemical evidence of urocanase deficiency collected utilizing untargeted metabolomic analysis...
March 2019: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30619713/severe-cystic-degeneration-and-intractable-seizures-in-a-newborn-with-molybdenum-cofactor-deficiency-type-b
#3
Fady Hannah-Shmouni, Lauren MacNeil, Murray Potter, Rebekah Jobling, Grace Yoon, Suzanne Laughlin, Susan Blaser, Michal Inbar-Feigenberg
Newborns with cystic degeneration with or without intractable seizures should be investigated for inborn errors of metabolism, including molybdenum cofactor deficiency (MoCoD). MoCoD may present with non-specific hypoxic ischemic injury in the neonatal period with MRI showing extensive prenatally acquired cystic encephalomalacia involving grey and white matter. Most newborns with MoCoD will present with normal head size and brain appearance at birth and postnatally rapidly develop cystic encephalomalacia. A significant minority will present with signs of prenatal brain injury or malformation...
March 2019: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30581750/response-to-leigh-like-syndrome-with-mild-mtdna-depletion-due-to-the-suclg1-variant-c-626c-a
#4
Christos Chinopoulos, Ron A Wevers, Hans R Waterham, Dimitrios Zafeiriou
No abstract text is available yet for this article.
March 2019: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30581749/-ndufaf5-variants-manifest-phenotypically-heterogeneously
#5
Josef Finsterer
No abstract text is available yet for this article.
March 2019: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30560055/leigh-like-syndrome-with-mild-mtdna-depletion-due-to-the-suclg1-variant-c-626c-t
#6
Josef Finsterer
No abstract text is available yet for this article.
March 2019: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30519529/allogeneic-stem-cell-transplantation-with-reduced-intensity-conditioning-for-patients-with-adrenoleukodystrophy
#7
Koji Kato, Ryo Maemura, Manabu Wakamatsu, Ayako Yamamori, Motoharu Hamada, Shinsuke Kataoka, Atsushi Narita, Shunsuke Miwata, Yuko Sekiya, Nozomu Kawashima, Kyogo Suzuki, Kotaro Narita, Sayoko Doisaki, Hideki Muramatsu, Hirotoshi Sakaguchi, Kimikazu Matsumoto, Yuka Koike, Osamu Onodera, Makiko Kaga, Nobuyuki Shimozawa, Nao Yoshida
Objective: The prognosis of adrenoleukodystrophy (ALD)with neurological involvement is generally dismal; however, allogeneic stem cell transplantation (SCT) is recognized as effective to stabilize or improve the clinical symptoms of ALD. Herein, we report the clinical outcomes of patients with ALD who consecutively underwent allogeneic stem cell transplantation with reduced intensity conditioning at our institution. Patients: Sixteen patients with ALD, who were symptomatic (n = 14) or presymptomatic (n = 2), received SCT from 2010 to 2016...
March 2019: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30505682/effects-of-hld-associated-polr1c-mutant-proteins-on-cellular-localization-and-differentiation
#8
Yuri Hiraoka, Kohei Hattori, Yu Takeuchi, Minami Yamawaki, Natsumi Watanabe, Naoto Matsumoto, Keiichi Homma, Yuki Miyamoto, Junji Yamauchi
No abstract text is available yet for this article.
December 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30416967/reproductive-experience-of-women-living-with-phenylketonuria
#9
Suzanne Ford, Mike O'Driscoll, Anita MacDonald
Introduction: Many women with PKU are well-informed about the risks of maternal PKU but there are several barriers to achieving satisfactory metabolic control before and during pregnancy. Many studies have documented the outcome of maternal PKU infants, but very little has been reported about the experiences of women of reproductive age with PKU, particularly about their psychosexual development, pre-conception, pregnancy and postnatal experience. Methods: In the UK, in a subsection of an online questionnaire conducted by the National Society for PKU (NSPKU) about living with PKU, women aged 18 years and over completed 9 closed questions about their pre-conception, pregnancy and post-natal experiences and an open-ended question on their reproductive health...
December 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30386727/fabry-disease-in-a-japanese-population-molecular-and-biochemical-characteristics
#10
Hitoshi Sakuraba, Takahiro Tsukimura, Tadayasu Togawa, Toshie Tanaka, Tomoko Ohtsuka, Atsuko Sato, Tomoko Shiga, Seiji Saito, Kazuki Ohno
We had experienced 117 Japanese Fabry patients (72 males and 45 females) from 1977 to 2006, and then we generated an improved Fabry analysis system in 2007 and have found 196 ones (95 males and 101 females) since then. In this study, we summarized the data of the patients and tried to elucidate the molecular and biochemical characteristics of Japanese Fabry patients. Gene analysis revealed various GLA mutations, including missense mutations (56.5%, 48 types); nonsense mutations (15.9%, 13 types); deletions (12...
December 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30364808/corticobasal-syndrome-in-a-man-with-gaucher-disease-type-1-expansion-of-the-understanding-of-the-neurological-spectrum
#11
Kunal C Potnis, Lauren B Flueckinger, Stephanie M DeArmey, Roy N Alcalay, Jeffrey W Cooney, Priya S Kishnani
Gaucher disease (GD) is an autosomal recessive condition that results from a deficiency of the enzyme β-glucocerebrosidase. The increased risk of primary parkinsonism symptoms among individuals affected with GD and carriers for the disorder is well-documented in the literature. However, these risks and case reports often reflect patients with classical Parkinson's disease (PD) symptoms. We report a patient with GD type 1 who was diagnosed with corticobasal syndrome (CBS), a clinical atypical parkinsonism diagnosis, in his sixth decade of life...
December 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30364764/stroke-like-episodes-in-coenzyme-q-deficiency-may-respond-to-no-precursors-and-non-mitochondrion-toxic-antiepileptic-drugs
#12
Josef Finsterer
No abstract text is available yet for this article.
December 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30364670/living-with-phenylketonuria-lessons-from-the-pku-community
#13
Suzanne Ford, Mike O'Driscoll, Anita MacDonald
Introduction: We report the practical, social and psychological issues of living with phenylketonuria (PKU) from one of the largest surveys that has been completed by both adults with PKU and parents/caregivers of children. Methods: In the UK, parents/caregivers of children and adults with PKU were invited to complete an online survey between November 2017 to January 2018 by the NSPKU (National Society for Phenylketonuria). Results: 631 participants (adults, n  = 338; parents/caregivers of children, n  = 293) with PKU completed the questionnaire...
December 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30310767/novel-heterozygous-mutations-in-the-pgam2-gene-with-negative-exercise-testing
#14
M Sidhu, L Brady, G D Vladutiu, M A Tarnopolsky
Pathogenic variants in the PGAM2 gene are associated with glycogen storage disease type X (GSDX) and is characterized by exercise induced muscle cramping, weakness, myoglobinuria, and often tubular aggregates in skeletal muscle. We report here a patient diagnosed with GSDX at 52 years of age with a normal increase in post-exercise lactate with both anaerobic and aerobic exercise. Genetic testing found two novel PGAM2 variants (c.426C > A, p.Tyr142Ter and c.533delG, p.Gly178Alafs*31).
December 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30294546/the-first-pediatric-case-of-glucagon-receptor-defect-due-to-biallelic-mutations-in-gcgr-is-identified-by-newborn-screening-of-elevated-arginine
#15
Hong Li, Lihua Zhao, Rani Singh, J Nina Ham, Doris O Fadoju, Lora J H Bean, Yan Zhang, Yong Xu, H Eric Xu, Michael J Gambello
Glucagon receptor (GCGR) defect (Mahvash disease) is an autosomal recessive hereditary pancreatic neuroendocrine tumor (PNET) syndrome that has only been reported in adults with pancreatic α cell hyperplasia and PNETs. We describe a 7-year-old girl with persistent hyperaminoacidemia, notable for elevations of glutamine (normal ammonia), alanine (normal lactate), dibasic amino acids (arginine, lysine and ornithine), threonine and serine. She initially was brought to medical attention by an elevated arginine on newborn screening (NBS) and treated for presumed arginase deficiency with a low protein diet, essential amino acids formula and an ammonia scavenger drug...
December 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30294545/antiepileptic-treatment-may-determine-the-outcome-of-fars2-mutation-carriers
#16
Josef Finsterer, Fulvio A Scorza, Carla A Scorza
No abstract text is available yet for this article.
December 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30294544/cytokines-levels-in-late-diagnosed-classical-homocystinuria-patients
#17
Soraia Poloni, Marina Siebert, Karina Carvalho Donis, Giovana R Weber Hoss, Henk J Blom, Ida V D Schwartz
No abstract text is available yet for this article.
December 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30294543/stroke-like-episodes-in-coenzyme-q-deficiency-may-respond-to-no-precursors-and-non-mitochondrion-toxic-antiepileptic-drugs
#18
Josef Finsterer
No abstract text is available yet for this article.
December 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30271721/metallosis-mimicking-a-metabolic-disorder-a-case-report
#19
Karolina M Stepien, Zaza Abidin, Graham Lee, Rachel Cullen, Patricia Logan, Gregory M Pastores
Metalic prosthesis or occupational exposure are potential sources of systemic cobalt and chromium ion toxicity. The resultant multisystemic clinical presentation can lead to unnecessary investigations before a final etiologic diagnosis is made; with an average delay of a year or more commonly noted. A 58-year old man presented with cardiomyopathy, pericardial effusion, polycytaemia, polyneuropathy, visual impairment, sudden hearing loss and hypothyroidism over a 2-year period post a metal-on-polyethylene hip replacement surgery...
December 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30228975/analysis-of-gbe1-mutations-via-protein-expression-studies-in-glycogen-storage-disease-type-iv-a-report-on-a-non-progressive-form-with-a-literature-review
#20
Hiroyuki Iijima, Reiko Iwano, Yukichi Tanaka, Koji Muroya, Tokiko Fukuda, Hideo Sugie, Kenji Kurosawa, Masanori Adachi
Background: Glycogen storage disease type IV (GSD IV), caused by GBE1 mutations, has a quite wide phenotypic variation. While the classic hepatic form and the perinatal/neonatal neuromuscular forms result in early mortality, milder manifestations include non-progressive form (NP-GSD IV) and adult polyglucosan body disease (APBD). Thus far, only one clinical case of a patient with compound heterozygous mutations has been reported for the molecular analysis of NP-GSD IV. This study aimed to elucidate the molecular basis in a NP-GSD IV patient via protein expression analysis and to obtain a clearer genotype-phenotype relationship in GSD IV...
December 2018: Molecular Genetics and Metabolism Reports
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