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Journal of Inherited Metabolic Disease

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https://www.readbyqxmd.com/read/28429146/clinical-validity-of-biochemical-and-molecular-analysis-in-diagnosing-leigh-syndrome-a-study-of-106-japanese-patients
#1
Erika Ogawa, Masaru Shimura, Takuya Fushimi, Makiko Tajika, Keiko Ichimoto, Ayako Matsunaga, Tomoko Tsuruoka, Mika Ishige, Tatsuo Fuchigami, Taro Yamazaki, Masato Mori, Masakazu Kohda, Yoshihito Kishita, Yasushi Okazaki, Shori Takahashi, Akira Ohtake, Kei Murayama
Leigh syndrome (LS) is a progressive neurodegenerative disorder of infancy and early childhood. It is clinically diagnosed by typical manifestations and characteristic computed tomography (CT) or magnetic resonance imaging (MRI) studies. Unravelling mitochondrial respiratory chain (MRC) dysfunction behind LS is essential for deeper understanding of the disease, which may lead to the development of new therapies and cure. The aim of this study was to evaluate the clinical validity of various diagnostic tools in confirming MRC disorder in LS and Leigh-like syndrome (LL)...
April 20, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28429145/cataract-and-early-nystagmus-due-to-galactokinase-deficiency
#2
Vladimir Bzduch, Dana Tomcikova, Anton Gerinec, Darina Behulova
No abstract text is available yet for this article.
April 20, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28425073/molecular-therapy-of-primary-hyperoxaluria
#3
Cristina Martin-Higueras, Armando Torres, Eduardo Salido
During the last few decades, the molecular understanding of the mechanisms involved in primary hyperoxalurias (PHs) has set the stage for novel therapeutic approaches. The availability of PH mouse models has facilitated preclinical studies testing innovative treatments. PHs are autosomal recessive diseases where the enzymatic deficit plays a central pathogenic role. Thus, molecular therapies aimed at restoring such deficit or limiting the consequences of the metabolic derangement could be envisioned, keeping in mind the specific challenges posed by the cell-autonomous nature of the deficiency...
April 19, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28409271/unique-presentation-of-cutis-laxa-with-leigh-like-syndrome-due-to-echs1-deficiency
#4
S Balasubramaniam, L G Riley, D Bratkovic, D Ketteridge, N Manton, M J Cowley, V Gayevskiy, T Roscioli, M Mohamed, T Gardeitchik, E Morava, J Christodoulou
Clinical finding of cutis laxa, characterized by wrinkled, redundant, sagging, nonelastic skin, is of growing significance due to its occurrence in several different inborn errors of metabolism (IEM). Metabolic cutis laxa results from Menkes syndrome, caused by a defect in the ATPase copper transporting alpha (ATP7A) gene; congenital disorders of glycosylation due to mutations in subunit 7 of the component of oligomeric Golgi (COG7)-congenital disorders of glycosylation (CDG) complex; combined disorder of N- and O-linked glycosylation, due to mutations in ATPase H+ transporting V0 subunit a2 (ATP6VOA2) gene; pyrroline-5-carboxylate reductase 1 deficiency; pyrroline-5-carboxylate synthase deficiency; macrocephaly, alopecia, cutis laxa, and scoliosis (MACS) syndrome, due to Ras and Rab interactor 2 (RIN2) mutations; transaldolase deficiency caused by mutations in the transaldolase 1 (TALDO1) gene; Gerodermia osteodysplastica due to mutations in the golgin, RAB6-interacting (GORAB or SCYL1BP1) gene; and mitogen-activated pathway (MAP) kinase defects, caused by mutations in several genes [protein tyrosine phosphatase, non-receptor-type 11 (PTPN11), RAF, NF, HRas proto-oncogene, GTPase (HRAS), B-Raf proto-oncogene, serine/threonine kinase (BRAF), MEK1/2, KRAS proto-oncogene, GTPase (KRAS), SOS Ras/Rho guanine nucleotide exchange factor 2 (SOS2), leucine rich repeat scaffold protein (SHOC2), NRAS proto-oncogene, GTPase (NRAS), and Raf-1 proto-oncogene, serine/threonine kinase (RAF1)], which regulate the Ras-MAPK cascade...
April 13, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28397058/clinical-and-biochemical-heterogeneity-between-patients-with-glycogen-storage-disease-type-ia-the-added-value-of-cusum-for-metabolic-control
#5
Fabian Peeks, Thomas A H Steunenberg, Foekje de Boer, M Estela Rubio-Gozalbo, Monique Williams, Rob Burghard, Fabienne Rajas, Maaike H Oosterveer, David A Weinstein, Terry G J Derks
OBJECTIVE: To study heterogeneity between patients with glycogen storage disease type Ia (GSD Ia), a rare inherited disorder of carbohydrate metabolism caused by the deficiency of glucose-6-phosphatase (G6Pase). STUDY DESIGN: Descriptive retrospective study of longitudinal clinical and biochemical data and long-term complications in 20 GSD Ia patients. We included 11 patients with homozygous G6PC mutations and siblings from four families carrying identical G6PC genotypes...
April 10, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28389818/roscoe-o-brady-md
#6
LETTER
Markus Ries
No abstract text is available yet for this article.
April 7, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28374337/rescuing-canavan-disease-engineering-the-wrong-cell-at-the-right-time
#7
LETTER
Morris H Baslow
No abstract text is available yet for this article.
April 3, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28341975/longitudinal-volumetric-and-2d-assessment-of-cerebellar-atrophy-in-a-large-cohort-of-children-with-phosphomannomutase-deficiency-pmm2-cdg
#8
Víctor de Diego, Antonio F Martínez-Monseny, Jordi Muchart, Daniel Cuadras, Raquel Montero, Rafael Artuch, Celia Pérez-Cerdá, Belén Pérez, Belén Pérez-Dueñas, Andrea Poretti, Mercedes Serrano
OBJECTIVE: We aim to delineate the progression of cerebellar atrophy (the primary neuroimaging finding) in children with phosphomannomutase-deficiency (PMM2-CDG) by analyzing longitudinal MRI studies and performing cerebellar volumetric analysis and a 2D cerebellar measurement. METHODS: Statistical analysis was used to compare MRI measurements [midsagittal vermis relative diameter (MVRD) and volume] of children with PMM2-CDG and sex- and age-matched controls, and to determine the rate of progression of cerebellar atrophy at different ages...
March 24, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28324240/neurocognitive-profiles-in-msud-school-age-patients
#9
Juliette Bouchereau, Julie Leduc-Leballeur, Samia Pichard, Apolline Imbard, Jean-François Benoist, Marie-Thérèse Abi Warde, Jean-Baptiste Arnoux, Valérie Barbier, Anaïs Brassier, Pierre Broué, Aline Cano, Brigitte Chabrol, Gilles Damon, Claire Gay, Isabelle Guillain, Florence Habarou, Delphine Lamireau, Chris Ottolenghi, Laetitia Paermentier, Frédérique Sabourdy, Guy Touati, Hélène Ogier de Baulny, Pascale de Lonlay, Manuel Schiff
Maple syrup urine disease (MSUD), an inborn error of amino acids catabolism is characterized by accumulation of branched chain amino acids (BCAAs) leucine, isoleucine, valine and their corresponding alpha-ketoacids. Impact on the cognitive development has been reported historically, with developmental delays of varying degree. Currently, earlier diagnosis and improved management allow a better neurodevelopment, without requirement of special education. However, specific impairments can be observed, and so far, results of detailed neurocognitive assessments are not available...
March 21, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28324239/mtdna-maintenance-defects-syndromes-and-genes
#10
Carlo Viscomi, Massimo Zeviani
A large group of mitochondrial disorders, ranging from early-onset pediatric encephalopathic syndromes to late-onset myopathy with chronic progressive external ophthalmoplegia (CPEOs), are inherited as Mendelian disorders characterized by disturbed mitochondrial DNA (mtDNA) maintenance. These errors of nuclear-mitochondrial intergenomic signaling may lead to mtDNA depletion, accumulation of mtDNA multiple deletions, or both, in critical tissues. The genes involved encode proteins belonging to at least three pathways: mtDNA replication and maintenance, nucleotide supply and balance, and mitochondrial dynamics and quality control...
March 21, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28314976/enzyme-replacement-therapy-and-beyond-in-memoriam-roscoe-o-brady-m-d-1923-2016
#11
REVIEW
Markus Ries
Lysosomal storage disorders are strong candidates for the development of specific innovative therapies. The discovery of enzyme deficiencies is an important milestone in understanding the underlying cause of disease. Being able to replace the first missing enzyme in a lysosomal storage required three decades of dedicated research. Successful drug development for lysosomal storage disorders was fostered by the U.S. Orphan Drug Act. Various optimization strategies have the potential to overcome the current limitations of enzyme replacement therapies...
March 17, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28303425/common-data-elements-for-clinical-research-in-mitochondrial-disease-a-national-institute-for-neurological-disorders-and-stroke-project
#12
Amel Karaa, Shamima Rahman, Anne Lombès, Patrick Yu-Wai-Man, Muniza K Sheikh, Sherita Alai-Hansen, Bruce H Cohen, David Dimmock, Lisa Emrick, Marni J Falk, Shana McCormack, David Mirsky, Tony Moore, Sumit Parikh, John Shoffner, Tanja Taivassalo, Mark Tarnopolsky, Ingrid Tein, Joanne C Odenkirchen, Amy Goldstein
OBJECTIVES: The common data elements (CDE) project was developed by the National Institute of Neurological Disorders and Stroke (NINDS) to provide clinical researchers with tools to improve data quality and allow for harmonization of data collected in different research studies. CDEs have been created for several neurological diseases; the aim of this project was to develop CDEs specifically curated for mitochondrial disease (Mito) to enhance clinical research. METHODS: Nine working groups (WGs), composed of international mitochondrial disease experts, provided recommendations for Mito clinical research...
March 16, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28303424/inherited-disorders-of-transition-metal-metabolism-an-update
#13
REVIEW
Peter T Clayton
Elements with a biological role include six trace transition metals: manganese, iron, cobalt, copper, zinc and molybdenum. Transition metals participate in group transfer reactions such as glycosylation and phosphorylation and those that can transfer an electron by alternating between two redox states such as iron (3+/2+) and copper (2+/1+) are also very important in biological redox reactions including the reduction of molecular oxygen and the transport of oxygen. However, these trace metals are also potentially toxic, generating reactive oxygen species through Fenton chemistry...
March 16, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28283844/long-term-survival-and-cardiopulmonary-outcome-in-children-with-hurler-syndrome-after-haematopoietic-stem-cell-transplantation
#14
Su Han Lum, Karolina M Stepien, Arunabha Ghosh, Alexander Broomfield, Heather Church, Jean Mercer, Simon Jones, Robert Wynn
Premature death in untreated children with Hurler syndrome (HS) in the first decade of life is largely due to life-threatening cardiopulmonary complications. We examined the long-term survival and cardiopulmonary outcome in 54 children undergoing haematopoietic stem cell transplantation (HSCT) at the Royal Manchester Children's Hospital from 1985 to 2008. The median age at first HSCT was 15.1 months. Eighteen had graft failure and nine died after first HSCT. Of 18 patients with graft failure, 17 underwent second HSCT and the remaining one was lost to follow-up (LOF)...
March 10, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28283843/ntcp-deficiency-and-persistently-raised-bile-salts-an-adult-case
#15
LETTER
Filip Van Herpe, Hans R Waterham, Christopher J Adams, Marcel Mannens, Hennie Bikker, Frédéric M Vaz, David Cassiman
No abstract text is available yet for this article.
March 10, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28281081/sweet-and-sour-an-update-on-classic-galactosemia
#16
REVIEW
Ana I Coelho, M Estela Rubio-Gozalbo, João B Vicente, Isabel Rivera
Classic galactosemia is a rare inherited disorder of galactose metabolism caused by deficient activity of galactose-1-phosphate uridylyltransferase (GALT), the second enzyme of the Leloir pathway. It presents in the newborn period as a life-threatening disease, whose clinical picture can be resolved by a galactose-restricted diet. The dietary treatment proves, however, insufficient in preventing severe long-term complications, such as cognitive, social and reproductive impairments. Classic galactosemia represents a heavy burden on patients' and their families' lives...
March 9, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28255779/mutations-in-slc25a22-hyperprolinaemia-vacuolated-fibroblasts-and-presentation-with-developmental-delay
#17
Emma S Reid, Hywel Williams, Glenn Anderson, Malika Benatti, Kling Chong, Chela James, Louise Ocaka, Cheryl Hemingway, Daniel Little, Richard Brown, Alasdair Parker, Simon Holden, Emma Footitt, Shamima Rahman, Paul Gissen, Philippa B Mills, Peter T Clayton
Mutations in SLC25A22 are known to cause neonatal epileptic encephalopathy and migrating partial seizures in infancy. Using whole exome sequencing we identified four novel SLC25A22 mutations in six children from three families. Five patients presented clinical features similar to those in the literature including hypotonia, refractory neonatal-onset seizures and developmental delay. However, the sixth patients presented atypically with isolated developmental delay, developing late-onset (absence) seizures only at 7 years of age...
March 2, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28255778/mitochondrial-acetoacetyl-coa-thiolase-deficiency-basal-ganglia-impairment-may-occur-independently-of-ketoacidosis
#18
Stéphanie Paquay, Agnès Bourillon, Samia Pichard, Jean-François Benoist, Pascale de Lonlay, Dries Dobbelaere, Alain Fouilhoux, Nathalie Guffon, Isabelle Rouvet, François Labarthe, Karine Mention, Guy Touati, Vassili Valayannopoulos, Hélène Ogier de Baulny, Monique Elmaleh-Bergès, Cécile Acquaviva-Bourdain, Christine Vianey-Saban, Manuel Schiff
BACKGROUND: Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency affects ketone body and isoleucine catabolism. Neurological impairment may occur secondary to ketoacidotic episodes. However, we observed neuromotor abnormalities without ketoacidotic events in two T2-deficient families. We hypothesized that the neurological signs were related to the genetic defect and may occur independently of ketoacidotic episodes. We therefore conducted a retrospective review on a French T2-deficient patient series searching for neuromotor impairment...
March 2, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28251416/expanding-the-phenotype-in-argininosuccinic-aciduria-need-for-new-therapies
#19
Julien Baruteau, Elisabeth Jameson, Andrew A Morris, Anupam Chakrapani, Saikat Santra, Suresh Vijay, Huriye Kocadag, Clare E Beesley, Stephanie Grunewald, Elaine Murphy, Maureen Cleary, Helen Mundy, Lara Abulhoul, Alexander Broomfield, Robin Lachmann, Yusof Rahman, Peter H Robinson, Lesley MacPherson, Katharine Foster, W Kling Chong, Deborah A Ridout, Kirsten McKay Bounford, Simon N Waddington, Philippa B Mills, Paul Gissen, James E Davison
OBJECTIVES: This UK-wide study defines the natural history of argininosuccinic aciduria and compares long-term neurological outcomes in patients presenting clinically or treated prospectively from birth with ammonia-lowering drugs. METHODS: Retrospective analysis of medical records prior to March 2013, then prospective analysis until December 2015. Blinded review of brain MRIs. ASL genotyping. RESULTS: Fifty-six patients were defined as early-onset (n = 23) if symptomatic < 28 days of age, late-onset (n = 23) if symptomatic later, or selectively screened perinatally due to a familial proband (n = 10)...
March 1, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28247148/very-long-chain-acyl-coa-dehydrogenase-vlcad-deficiency-studies-on-treatment-effects-and-long-term-outcomes-in-mouse-models
#20
REVIEW
Sara Tucci
Very-long-chain-acyl-CoA-dehydrogenase deficiency is the most common disorder of mitochondrial long-chain fatty acid (LCFA) oxidation, with an incidence of 1:50,000-1:100,000 in newborns. Catabolic situations contribute to the aggravation of symptoms and induce severe metabolic derangement. Treatment for VLCAD-deficiency includes avoidance of fasting and a long-chain fat-restricted and fat-modified diet in which LCFAs are fully or partially replaced by medium-chain triglycerides (MCT). The aim of this work was to investigate the outcome and the effects of long-term treatment in a mouse model of VLCAD-deficiency...
February 28, 2017: Journal of Inherited Metabolic Disease
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