journal
MENU ▼
Read by QxMD icon Read
search

Journal of Inherited Metabolic Disease

journal
https://www.readbyqxmd.com/read/28324240/neurocognitive-profiles-in-msud-school-age-patients
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/28229250/role-of-mirnas-in-human-disease-and-inborn-errors-of-metabolism
#13
Ana Rivera-Barahona, Belén Pérez, Eva Richard, Lourdes R Desviat
MicroRNAs (miRNAs) are short, noncoding RNAs that regulate gene expression posttranscriptionally by base pairing with target messenger RNAs (mRNAs). They are estimated to target ∼60% of all human protein-coding genes and are involved in regulating key physiological processes and intracellular signaling pathways. They also exhibit tissue specificity, and their dysregulation is linked to the progression of pathology. Identifying disease associated miRNAs and their respective targets provides novel molecular insight into disease, enabling the design of new therapeutic strategies...
February 22, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28220263/characterization-and-outcome-of-41-patients-with-beta-ketothiolase-deficiency-10%C3%A2-years-experience-of-a-medical-center-in-northern-vietnam
#14
Khanh Ngoc Nguyen, Elsayed Abdelkreem, Roberto Colombo, Yuki Hasegawa, Ngoc Thi Bich Can, Thao Phuong Bui, Hai Thanh Le, Mai Thi Chi Tran, Hoan Thi Nguyen, Hung Thanh Trinh, Yuka Aoyama, Hideo Sasai, Seiji Yamaguchi, Toshiyuki Fukao, Dung Chi Vu
Beta-ketothiolase (T2) deficiency is an inherited disease of isoleucine and ketone body metabolism caused by mutations in the ACAT1 gene. Between 2005 and 2016, a total of 41 patients with T2 deficiency were identified at a medical center in northern Vietnam, with an estimated incidence of one in 190,000 newborns. Most patients manifested ketoacidotic episodes of varying severity between 6 and 18 months of age. Remarkably, 28% of patients showed high blood glucose levels (up to 23.3 mmol/L). Ketoacidotic episodes recurred in 43% of patients...
February 20, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28210873/inborn-errors-of-metabolism-associated-with-psychosis-literature-review-and-case-control-study-using-exome-data-from-5090-adult-individuals
#15
Yannis J Trakadis, Vanessa Fulginiti, Mark Walterfang
A literature review was conducted, using the computerized "Online Mendelian Inheritance in Man" (OMIM) and PubMed, to identify inborn errors of metabolism (IEM) in which psychosis may be a predominant feature or the initial presenting symptom. Different combinations of the following keywords were searched using OMIM: "psychosis", "schizophrenia", or "hallucinations" and "metabolic", "inborn error of metabolism", "inborn errors of metabolism", "biochemical genetics", or "metabolic genetics". The OMIM search generated 126 OMIM entries, 40 of which were well known IEM...
February 16, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28205048/mild-orotic-aciduria-in-umps-heterozygotes-a-metabolic-finding-without-clinical-consequences
#16
Saskia B Wortmann, Margaret A Chen, Roberto Colombo, Alessandro Pontoglio, Bader Alhaddad, Lorenzo D Botto, Tatiana Yuzyuk, Curtis R Coughlin, Maria Descartes, Stephanie Grűnewald, Bruno Maranda, Philippa B Mills, James Pitt, Catherine Potente, Richard Rodenburg, Leo A J Kluijtmans, Srirangan Sampath, Emil F Pai, Ron A Wevers, George E Tiller
BACKGROUND: Elevated urinary excretion of orotic acid is associated with treatable disorders of the urea cycle and pyrimidine metabolism. Establishing the correct and timely diagnosis in a patient with orotic aciduria is key to effective treatment. Uridine monophosphate synthase is involved in de novo pyrimidine synthesis. Uridine monophosphate synthase deficiency (or hereditary orotic aciduria), due to biallelic mutations in UMPS, is a rare condition presenting with megaloblastic anemia in the first months of life...
February 15, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28194540/erratum-to-international-paediatric-mitochondrial-disease-scale
#17
Saskia Koene
No abstract text is available yet for this article.
February 13, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28185024/disturbed-iron-metabolism-in-erythropoietic-protoporphyria-and-association-of-gdf15-and-gender-with-disease-severity
#18
Jasmin Barman-Aksoezen, Domenico Girelli, Caterina Aurizi, Xiaoye Schneider-Yin, Natascia Campostrini, Luca Barbieri, Elisabeth I Minder, Gianfranco Biolcati
Patients with erythropoietic protoporphyria (EPP) have reduced activity of the enzyme ferrochelatase that catalyzes the insertion of iron into protoporphyrin IX (PPIX) to form heme. As the result of ferrochelatase deficiency, PPIX accumulates and causes severe photosensitivity. Among different patients, the concentration of PPIX varies considerably. In addition to photosensitivity, patients frequently exhibit low serum iron and a microcytic hypochromic anemia. The aims of this study were to (1) search for factors related to PPIX concentration in EPP, and (2) characterize anemia in EPP, i...
February 9, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28168361/recent-advances-in-liver-transplantation-for-metabolic-disease
#19
P J Mc Kiernan
The indications and outcomes of liver transplantation for metabolic disease have been reviewed recently and this short review concentrates on recent developments and advances. Recently recognized metabolic causes of acute liver failure are reviewed and their implications for transplantation discussed. Newly described indications for liver transplantation in systemic metabolic diseases are described and an update is given on the role of auxiliary and domino liver transplantation.
February 6, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28160112/losartan-improves-aortic-dilatation-and-cardiovascular-disease-in-mucopolysaccharidosis-i
#20
LETTER
Esteban Alberto Gonzalez, Angela Maria Vicente Tavares, Edina Poletto, Roberto Giugliani, Ursula Matte, Guilherme Baldo
No abstract text is available yet for this article.
February 3, 2017: Journal of Inherited Metabolic Disease
journal
journal
27809
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"