journal
MENU ▼
Read by QxMD icon Read
search

Molecular Genetics and Metabolism

journal
https://www.readbyqxmd.com/read/29129654/corrigendum-to-cause-of-death-in-patients-with-chronic-visceral-and-chronic-neurovisceral-acid-sphingomyelinase-deficiency-niemann-pick-disease-type-b-and-b-variant-literature-review-and-report-of-new-cases-mol-genet-metab-118-2016-206-213
#1
David Cassiman, Seymour Packman, Bruno Bembi, Hadhami Ben Turkia, Moeenaldeen Al-Sayed, Manuel Schiff, Jackie Imrie, Paulina Mabe, Tsutomu Takahashi, Karl Eugen Mengel, Roberto Giugliani, Gerald F Cox
No abstract text is available yet for this article.
November 9, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29122468/an-intronic-variation-in-slc52a1-causes-exon-skipping-and-transient-riboflavin-responsive-multiple-acyl-coa-dehydrogenation-deficiency
#2
Signe Mosegaard, Gitte Hoffmann Bruun, Karen Freund Flyvbjerg, Yngve Thomas Bliksrud, Niels Gregersen, Maja Dembic, Ellen Annexstad, Trine Tangeraas, Rikke Katrine Jentoft Olsen, Brage S Andresen
Vitamin B2, riboflavin is essential for cellular function, as it participates in a diversity of redox reactions central to human metabolism, through its role as precursor for the cofactors flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD), which are electron carriers. The electron transfer flavoprotein (ETF) and its dehydrogenase (ETFDH), uses FAD as cofactor. The ETF and ETFDH are forming the electron transport pathway for many mitochondrial flavoprotein dehydrogenases involved in fatty acid, amino acid and choline metabolism...
November 2, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29089175/comparison-of-c26-0-carnitine-and-c26-0-lysophosphatidylcholine-as-diagnostic-markers-in-dried-blood-spots-from-newborns-and-patients-with-adrenoleukodystrophy
#3
Irene C Huffnagel, Malu-Clair van de Beek, Amanda L Showers, Joseph J Orsini, Femke C C Klouwer, Inge M E Dijkstra, Peter C Schielen, Henk van Lenthe, Ronald J A Wanders, Frédéric M Vaz, Mark A Morrissey, Marc Engelen, Stephan Kemp
X-linked adrenoleukodystrophy (ALD) is the most common leukodystrophy with a birth incidence of 1:14,700 live births. The disease is caused by mutations in ABCD1 and characterized by very long-chain fatty acids (VLCFA) accumulation. In childhood, male patients are at high-risk to develop adrenal insufficiency and/or cerebral demyelination. Timely diagnosis is essential. Untreated adrenal insufficiency can be life-threatening and hematopoietic stem cell transplantation is curative for cerebral ALD provided the procedure is performed in an early stage of the disease...
October 28, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29100779/tandem-mass-spectrometry-assay-of-%C3%AE-glucocerebrosidase-activity-in-dried-blood-spots-eliminates-false-positives-detected-in-fluorescence-assay
#4
Pavlina Wolf, Roy N Alcalay, Christopher Liong, Emmaline Cullen, Michael W Pauciulo, William C Nichols, Ziv Gan-Or, Wendy K Chung, Tina Faulkner, Christopher Bentis, Robert J Pomponio, Xiwen Ma, X Kate Zhang, Joan M Keutzer, Petra Oliva
Deficiency of β-Glucocerebrosidase (GBA) activity causes Gaucher Disease (GD). GD can be diagnosed by measuring GBA activity (Beutler and Kuhl, 1990). In this study, we assayed dried blood spots from a cohort (n=528) enriched for GBA mutation carriers (n=78) and GD patients (n=18) using both the tandem mass spectrometry (MS/MS) and fluorescence assays and their respective synthetic substrates. The MS/MS assay differentiated normal controls, which included GBA mutation carriers, from GD patients with no overlap...
October 23, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29102225/-mild-hyperphenylalaninemia-a-case-series-of-seven-treated-patients-following-newborn-screening
#5
Sarah Viall, Omar Ayyub, Matthew Rasberry, Kelly Lyons, Nicholas Ah Mew
Hyperphenylalaninemia (HPA) is a disorder diagnosed only incidentally by newborn screening, a by-product of screening for classic phenylketonuria (PKU) which, if untreated, causes irreversible neurologic sequelae. In contrast, HPA is thought to have a benign phenotype because phenylalanine (Phe) levels are insufficiently elevated to cause neurological damage, obviating the need for rigorous dietary protein restriction. Phenylalanine below 360μmol/L is generally considered safe, thus this threshold is both the upper therapeutic range for treated PKU and the highest Phe expected to be possible for most individuals with HPA...
October 20, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29122469/sensitivity-of-whole-exome-sequencing-in-detecting-infantile-and-late-onset-pompe-disease
#6
Mari Mori, Gloria Haskell, Zoheb Kazi, Xiaolin Zhu, Stephanie M DeArmey, Jennifer L Goldstein, Deeksha Bali, Catherine Rehder, Elizabeth T Cirulli, Priya S Kishnani
Pompe disease is a metabolic myopathy with a wide spectrum of clinical presentation. The gold-standard diagnostic test is acid alpha-glucosidase assay on skin fibroblasts, muscle or blood. Identification of two GAA pathogenic variants in-trans is confirmatory. Optimal effectiveness of enzyme replacement therapy hinges on early diagnosis, which is challenging in late-onset form of the disease due to non-specific presentation. Next-generation sequencing-based panels effectively facilitate diagnosis, but the sensitivity of whole-exome sequencing (WES) in detecting pathogenic GAA variants remains unknown...
October 17, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29050825/neuroimaging-findings-in-infantile-pompe-patients-treated-with-enzyme-replacement-therapy
#7
Paul T McIntosh, Lisa D Hobson-Webb, Zoheb B Kazi, Sean N Prater, Suhrad G Banugaria, Stephanie Austin, Raymond Wang, David S Enterline, Donald P Frush, Priya S Kishnani
BACKGROUND: Recombinant human acid α-glucosidase (rhGAA) enzyme replacement therapy (ERT) has prolonged survival in infantile Pompe disease (IPD), but has unmasked central nervous system (CNS) changes. METHODS: Brain imaging, consisting of computed tomography (CT) and/or magnetic resonance imaging (MRI), was performed on 23 patients with IPD (17 CRIM-positive, 6 CRIM-negative) aged 2-38months. Most patients had baseline neuroimaging performed prior to the initiation of ERT...
October 13, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29126765/new-insights-into-the-phenotype-of-fars2-deficiency
#8
Elise Vantroys, Austin Larson, Marisa Friederich, Kaz Knight, Michael A Swanson, Christopher A Powell, Joél Smet, Sarah Vergult, Boel De Paepe, Sara Seneca, Herbert Roeyers, Björn Menten, Michal Minczuk, Arnaud Vanlander, Johan Van Hove, Rudy Van Coster
Mutations in FARS2 are known to cause dysfunction of mitochondrial translation due to deficient aminoacylation of the mitochondrial phenylalanine tRNA. Here, we report three novel mutations in FARS2 found in two patients in a compound heterozygous state. The missense mutation c.1082C>T (p.Pro361Leu) was detected in both patients. The mutations c.461C>T (p.Ala154Val) and c.521_523delTGG (p.Val174del) were each detected in one patient. We report abnormal in vitro aminoacylation assays as a functional validation of the molecular genetic findings...
October 12, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29054612/dihydropyrimidinase-deficiency-in-four-east-asian-patients-due-to-novel-and-rare-dpys-mutations-affecting-protein-structural-integrity-and-catalytic-activity
#9
Yoko Nakajima, Judith Meijer, Doreen Dobritzsch, Tetsuya Ito, Chunhua Zhang, Xu Wang, Yoriko Watanabe, Kyoko Tashiro, Rutger Meinsma, Jeroen Roelofsen, Lida Zoetekouw, André B P van Kuilenburg
Dihydropyrimidinase (DHP) is the second enzyme of the pyrimidine degradation pathway and catalyzes the ring opening of 5,6-dihydrouracil and 5,6-dihydrothymine. To date, only 31 genetically confirmed patients with a DHP deficiency have been reported and the clinical, biochemical and genetic spectrum of DHP deficient patients is, therefore, still largely unknown. Here, we show that 4 newly identified DHP deficient patients presented with strongly elevated levels of 5,6-dihydrouracil and 5,6-dihydrothymine in urine and a highly variable clinical presentation, ranging from asymptomatic to infantile spasm and reduced white matter and brain atrophy...
October 12, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29033250/propionyl-coa-carboxylase-a-review
#10
REVIEW
Parith Wongkittichote, Nicholas Ah Mew, Kimberly A Chapman
Propionyl-CoA carboxylase (PCC) is the enzyme which catalyzes the carboxylation of propionyl-CoA to methylmalonyl-CoA and is encoded by the genes PCCA and PCCB to form a hetero-dodecamer. Dysfunction of PCC leads to the inherited metabolic disorder propionic acidemia, which can result in an affected individual presenting with metabolic acidosis, hyperammonemia, lethargy, vomiting and sometimes coma and death if not treated. Individuals with propionic acidemia also have a number of long term complications resulting from the dysfunction of the PCC enzyme...
October 7, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29055531/the-utility-of-the-fipi-score-in-predicting-long-term-clinical-outcomes-in-patients-with-fabry-disease-receiving-enzyme-replacement-therapy-with-agalsidase-alfa
#11
Dylan J Mac Lochlainn, Douglas G J McKechnie, Atul B Mehta, Derralynn A Hughes
Fabry disease is a rare X-linked lysosomal storage disorder in which there is deficiency of alpha galactosidase A. Enzyme replacement therapy (ERT) is commercially available and has been demonstrated to improve cardiac and renal outcomes. Predictive scores, such as the Fabry International Prognostic Index (FIPI), have been developed to stratify disease severity; however, these have not been validated to predict outcomes in patients receiving ERT. We show that the FIPI score at baseline can predict outcomes in a group of patients on long-term ERT...
October 5, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29032949/correction-of-hyperleucinemia-in-msud-patients-on-leucine-free-dietary-therapy
#12
Anna I Scott, Kristina Cusmano-Ozog, Gregory M Enns, Tina M Cowan
PURPOSE: Maple Syrup Urine Disease (MSUD) is a rare disorder of branched-chain amino acid catabolism associated with encephalopathy from accumulation of leucine. Leucine is closely monitored during normal growth and particularly during acute illness. As most hospitals do not have access to rapid plasma amino acid quantification, the initial management is often empirical. A model describing the reduction of plasma leucine in hyperleucinemic patients on leucine-free formula would help to guide management and optimize testing frequency...
October 5, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28951071/insight-into-the-phenotype-of-infants-with-pompe-disease-identified-by-newborn-screening-with-the-common-c-32-13t-g-late-onset-gaa-variant
#13
Mugdha V Rairikar, Laura E Case, Lauren A Bailey, Zoheb B Kazi, Ankit K Desai, Kathryn L Berrier, Julie Coats, Rachel Gandy, Rebecca Quinones, Priya S Kishnani
OBJECTIVE: Newborn screening (NBS) has led to early diagnosis and early initiation of treatment for infantile onset Pompe Disease (IOPD). However, guidelines for management of late onset Pompe disease (LOPD) via NBS, especially with the IVS c.-32-13T>G are not clear. This IVS variant is noted in 68-90% cases with LOPD and has been presumed to result in "adult" disease in compound heterozygosity, with a few cases with earlier onset and a mild to no phenotype in homozygosity. Our study evaluates newborns with LOPD having IVS variant with a diligent multidisciplinary approach to determine if they have an early presentation...
September 19, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28943110/therapies-for-mitochondrial-diseases-and-current-clinical-trials
#14
REVIEW
Ayman W El-Hattab, Ana Maria Zarante, Mohammed Almannai, Fernando Scaglia
Mitochondrial diseases are a clinically and genetically heterogeneous group of disorders that result from dysfunction of the mitochondrial oxidative phosphorylation due to molecular defects in genes encoding mitochondrial proteins. Despite the advances in molecular and biochemical methodologies leading to better understanding of the etiology and mechanism of these diseases, there are still no satisfactory therapies available for mitochondrial disorders. Treatment for mitochondrial diseases remains largely symptomatic and does not significantly alter the course of the disease...
September 18, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29128371/assessments-of-neurocognitive-and-behavioral-function-in-the-mucopolysaccharidoses
#15
REVIEW
Elsa G Shapiro, Maria L Escolar, Kathleen A Delaney, John J Mitchell
The mucopolysaccharidoses (MPS) are a group of rare, inherited lysosomal storage disorders in which accumulation of glycosaminoglycans (GAGs) leads to progressive tissue and organ dysfunction. In addition to a variety of somatic signs and symptoms, patients with rapidly progressing MPS I (Hurler), II, III, and VII can present with significant neurological manifestations, including impaired cognitive abilities, difficulties in language and speech, behavioral abnormalities, sleep problems, and/or seizures. Neurological symptoms have a substantial impact on the quality of life of MPS patients and their families...
September 15, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29111092/quantitative-neuroimaging-in-mucopolysaccharidoses-clinical-trials
#16
REVIEW
Igor Nestrasil, Leonardo Vedolin
The mucopolysaccharidosis (MPS) disorders are rare lysosomal storage disorders caused by mutations in lysosomal enzymes involved in glycosaminoglycan (GAG) degradation. The resulting intracellular accumulation of GAGs leads to widespread tissue and organ dysfunction. In addition to somatic signs and symptoms, patients with MPS can present with neurological manifestations such as cognitive decline, behavioral problems (e.g. hyperactivity and aggressiveness), sleep disturbances, and/or epilepsy. These are associated with significant abnormalities of the central nervous system (CNS), including white and gray matter lesions, brain atrophy, ventriculomegaly, and spinal cord compression...
September 15, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28947349/contribution-of-inflammatory-pathways-to-fabry-disease-pathogenesis
#17
REVIEW
Paula Rozenfeld, Sandro Feriozzi
Lysosomal storage diseases are usually considered to be pathologies in which the passive deposition of unwanted materials leads to functional changes in lysosomes. Lysosomal deposition of unmetabolized glycolipid substrates stimulates the activation of pathogenic cascades, including immunological processes, and particularly the activation of inflammation. In lysosomal storage diseases, the inflammatory response is continuously being activated because the stimulus cannot be eliminated. Consequently, inflammation becomes a chronic process...
September 13, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28918066/enzymatic-testing-sensitivity-variability-and-practical-diagnostic-algorithm-for-pyruvate-dehydrogenase-complex-pdc-deficiency
#18
Ha Kyung Shin, George Grahame, Shawn E McCandless, Douglas S Kerr, Jirair K Bedoyan
Pyruvate dehydrogenase complex (PDC) deficiency is a major cause of primary lactic acidemia in children. Prompt and correct diagnosis of PDC deficiency and differentiating between specific vs generalized, or secondary deficiencies has important implications for clinical management and therapeutic interventions. Both genetic and enzymatic testing approaches are being used in the diagnosis of PDC deficiency. However, the diagnostic efficacy of such testing approaches for individuals affected with PDC deficiency has not been systematically investigated in this disorder...
September 8, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28916119/safety-and-efficacy-of-glycerol-phenylbutyrate-for-management-of-urea-cycle-disorders-in-patients-aged-2months-to-2years
#19
Susan A Berry, Nicola Longo, George A Diaz, Shawn E McCandless, Wendy E Smith, Cary O Harding, Roberto Zori, Can Ficicioglu, Uta Lichter-Konecki, Beth Robinson, Jerry Vockley
INTRODUCTION: Glycerol phenylbutyrate (GPB) is approved in the US for the management of patients 2months of age and older with urea cycle disorders (UCDs) that cannot be managed with protein restriction and/or amino acid supplementation alone. Limited data exist on the use of nitrogen conjugation agents in very young patients. METHODS: Seventeen patients (15 previously on other nitrogen scavengers) with all types of UCDs aged 2months to 2years were switched to, or started, GPB...
September 8, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28919002/x-linked-adrenoleukodystrophy-in-a-chimpanzee-due-to-an-abcd1-mutation-reported-in-multiple-unrelated-humans
#20
Julian Curiel, Steven Jeffrey Steinberg, Sarah Bright, Ann Snowden, Ann B Moser, Florian Eichler, Holly A Dubbs, Joseph G Hacia, John J Ely, Jocelyn Bezner, Alisa Gean, Adeline Vanderver
BACKGROUND: X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder leading to the accumulation of very long chain fatty acids (VLCFA) due to a mutation in the ABCD1 gene. ABCD1 mutations lead to a variety of phenotypes, including cerebral X-ALD and adrenomyeloneuropathy (AMN) in affected males and 80% of carrier females. There is no definite genotype-phenotype correlation with intrafamilial variability. Cerebral X-ALD typically presents in childhood, but can also present in juveniles and adults...
September 1, 2017: Molecular Genetics and Metabolism
journal
journal
32957
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"