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Journal of Inherited Metabolic Disease

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https://read.qxmd.com/read/30773687/phenotype-treatment-practice-and-outcome-in-the-cobalamin-dependent-remethylation-disorders-and-mthfr-deficiency-data-from-the-e-hod-registry
#1
Martina Huemer, Daria Diodato, Diego Martinelli, Giorgia Olivieri, Henk Blom, Florian Gleich, Stefan Kölker, Viktor Kožich, Andrew A Morris, Burkhardt Seifert, D Sean Froese, Matthias R Baumgartner, Carlo Dionisi-Vici, Carlos Alcalde Martin, Martina Baethmann, Diana Ballhausen, Javier Blasco-Alonso, Nikolas Boy, Maria Bueno, Rosa Burgos Peláez, Roberto Cerone, Brigitte Chabrol, Kimberly A Chapman, Maria Luz Couce, Ellen Crushell, Jaime Dalmau Serra, Luisa Diogo, Can Ficicioglu, Maria Concepcion García Jimenez, Maria Teresa García Silva, Ana Maria Gaspar, Matthias Gautschi, Domingo González-Lamuño, Sofia Gouveia, Stephanie Grünewald, Chris Hendriksz, Mirian C H Janssen, Pavel Jesina, Johannes Koch, Vassiliki Konstantopoulou, Christian Lavigne, Allan M Lund, Esmeralda G Martins, Silvia Meavilla Olivas, Karine Mention, Fanny Mochel, Helen Mundy, Elaine Murphy, Stephanie Paquay, Consuelo Pedrón-Giner, Maria Angeles Ruiz Gómez, Saikat Santra, Manuel Schiff, Ida Vanessa Schwartz, Sabine Scholl-Bürgi, Aude Servais, Anastasia Skouma, Christel Tran, Inmaculada Vives Piñera, John Walter, James Weisfeld-Adams
AIM: To explore the clinical presentation, course, treatment and impact of early treatment in patients with remethylation disorders from the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD) international web-based registry. RESULTS: This review comprises 238 patients (cobalamin C defect n = 161; methylenetetrahydrofolate reductase deficiency n = 50; cobalamin G defect n = 11; cobalamin E defect n = 10; cobalamin D defect n = 5; and cobalamin J defect n = 1) from 47 centres for whom the E-HOD registry includes, as a minimum, data on medical history and enrolment visit...
February 17, 2019: Journal of Inherited Metabolic Disease
https://read.qxmd.com/read/30767241/new-insights-into-human-lysine-degradation-pathways-with-relevance-to-pyridoxine-dependent-epilepsy-due-to-antiquitin-deficiency
#2
Lisa M Crowther, Déborah Mathis, Martin Poms, Barbara Plecko
BACKGROUND: Deficiency of antiquitin (ATQ), an enzyme involved in lysine degradation, is the major cause of vitamin B6 dependent epilepsy. Accumulation of the potentially neurotoxic α-aminoadipic semialdehyde (AASA) may contribute to frequently associated developmental delay. AASA is formed by α-aminoadipic semialdehyde synthase (AASS) via the saccharopine pathway of lysine degradation, or, as has been postulated, by the pipecolic acid (PA) pathway, and then converted to α-aminoadipic acid (AAA) by ATQ...
February 14, 2019: Journal of Inherited Metabolic Disease
https://read.qxmd.com/read/30761556/neurometabolic-hereditary-diseases-of-adults
#3
Georg F Hoffmann
Springer International Publishing AG 2018, ISBN 978-3-319-76148-0, ISBN 978-3-319-76148-0 (ebook) Growing up is a fascinating journey. The book "Neurometabolic Hereditary Diseases of Adults" designed and edited by Dr. Allessandro P. Burlina is an eye opener for an area of metabolic medicine which has slowly progressed, is maturing and most of all very important in clinical significance and number of patients. This article is protected by copyright. All rights reserved.
February 13, 2019: Journal of Inherited Metabolic Disease
https://read.qxmd.com/read/30761551/impact-of-nbs-for-vlcad-deficiency-on-genetic-enzymatic-and-clinical-outcomes
#4
Jeannette C Bleeker, Irene L Kok, Sacha Ferdinandusse, W Ludo van der Pol, Inge Cuppen, Annet M Bosch, Mirjam Langeveld, Terry G J Derks, Monique Williams, Maaike de Vries, Margot F Mulder, Estela Rubio Gozalbo, Monique G M de Sain- van der Velden, Alexander J Rennings, Peter J C I Schielen, Eugenie Dekkers, Riekelt H Houtkooper, Hans R Waterham, Mia L Pras-Raves, Ronald J A Wanders, Peter M van Hasselt, Marja Schoenmakers, Frits A Wijburg, Gepke Visser
BACKGROUND: Most infants with very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) identified by newborn screening (NBS) are asymptomatic at the time of diagnosis and remain asymptomatic. If this outcome is due to prompt diagnosis and initiation of therapy, or because of identification of individuals with biochemical abnormalities who will never develop symptoms, is unclear. METHODS: A 10 year longitudinal national cohort study of genetically confirmed VLCADD patients born before and after introduction of NBS...
February 13, 2019: Journal of Inherited Metabolic Disease
https://read.qxmd.com/read/30746739/biotin-in-metabolism-gene-expression-and-human-disease
#5
Alfonso León-Del-Río
Biotin is a water soluble vitamin that belongs to the vitamin B complex and which is an essential nutrient of all living organisms from bacteria to man. In eukaryotic cells biotin functions as a prosthetic group of enzymes, collectively known as biotin-dependent carboxylases that catalyze key reactions in gluconeogenesis, fatty acid synthesis, and amino acid catabolism (Wolf 2001). Enzyme-bound biotin acts as a vector to transfer a carboxyl group between donor and acceptor molecules during carboxylation reactions (León-Del-Rio et al...
February 11, 2019: Journal of Inherited Metabolic Disease
https://read.qxmd.com/read/30746719/long-term-evaluation-of-urinary-copper-excretion-and-non-caeruloplasmin-associated-copper-in-wilson-disease-patients-under-medical-treatment
#6
Jan Pfeiffenberger, Christine Marie Lohse, Daniel Gotthardt, Christian Rupp, Markus Weiler, Ulrike Teufel, Karl Heinz Weiss, Annika Gauss
OBJECTIVE: Urinary copper excretion rates and non-caeruloplasmin associated copper concentrations are increased in patients with Wilson disease. However, there is little literature describing the monitoring of these parameters over the long term. METHODS: This is a monocentric retrospective study including data collected between 2003 and 2015 from 321 patients with Wilson disease by chart review. The patients were under therapy with D-penicillamine, trientine, or zinc...
February 11, 2019: Journal of Inherited Metabolic Disease
https://read.qxmd.com/read/30746707/allogeneic-hematopoietic-stem-cell-transplantation-with-myeloablative-conditioning-for-adult-cerebral-x-linked-adrenoleukodystrophy
#7
Nils Waldhüter, Wolfgang Köhler, Philipp G Hemmati, Christian Jehn, Rudolf Peceny, Giang L Vuong, Renate Arnold, Jörn-Sven Kühl
The adult cerebral form of X-linked adrenoleukodystrophy (ACALD), an acute inflammatory demyelinating disease, results in a rapidly progressive neurodegeneration, typically leading to severe disability or death within a few years after onset. We have treated 15 men who had developed ACALD with allogeneic hematopoietic stem cell transplantation (HSCT) from matched donors after myeloablative conditioning with busulfan and cyclophosphamide. All patients engrafted and 11 survived (estimated survival 73 ± 11%), 8 with stable cognition and 7 of them with stable motor function (estimated event-free survival 36 ± 17%)...
February 11, 2019: Journal of Inherited Metabolic Disease
https://read.qxmd.com/read/30737808/brain-imaging-in-classic-nonketotic-hyperglycinemia-quantitative-analysis-and-relation-to-phenotype
#8
Nicholas V Stence, Laura Z Fenton, Claire Levek, Suhong Tong, Curtis R Coughlin Ii, Julia B Hennermann, Saskia B Wortmann, Johan L K Van Hove
OBJECTIVE: Patients with severe nonketotic hyperglycinemia have absent psychomotor development and intractable epilepsy, whereas attenuated patients have variable psychomotor development and absent or treatable epilepsy; differences in brain MRI between phenotypes have not been reported. METHODS: In a retrospective cross-sectional study, we reviewed 38 MRI studies from 24 molecularly proven nonketotic hyperglycinemia patients, and two transient nonketotic hyperglycinemia patients...
February 9, 2019: Journal of Inherited Metabolic Disease
https://read.qxmd.com/read/30734935/evaluation-of-dietary-treatment-and-amino-acid-supplementation-in-organic-acidurias-and-urea-cycle-disorders
#9
Femke Molema, Florian Gleich, Peter Burgard, Ans T van der Ploeg, Marshall L Summar, Kimberly A Chapman, Ivo Barić, Allan M Lund, Stefan Kölker, Monique Williams
INTRODUCTION: Organic acidurias (OAD) and urea-cycle disorders (UCD) are rare inherited disorders affecting amino acid and protein metabolism. As dietary practice varies widely, we assessed their long-term prescribed dietary treatment against published guideline and studied plasma amino acids levels. METHOD: We analyzed data from the first visit recorded in the European registry and network for intoxication type metabolic diseases (E-IMD, Chafea no. 2010 12 01)...
February 8, 2019: Journal of Inherited Metabolic Disease
https://read.qxmd.com/read/30734325/development-and-feasibility-of-the-use-of-an-assessment-tool-measuring-treatment-efficacy-in-patients-with-trimethylaminuria-a-mixed-methods-study
#10
Krzysztof Rutkowski, Yusof Rahman, Mary Halter
Trimethylaminuria (TMAU) is a rare metabolic condition characterised by an unpleasant smell resembling rotting fish. Currently, the only measure of treatment efficacy is urine trimethylamine levels which do not always reflect the patient's experience of symptoms. A literature review did not find a specific tool to assess treatment efficacy from the patient's perspective. The aim of this study was to develop an assessment tool to provide a quantitative measure of treatment efficacy in patients diagnosed with TMAU before and after treatment and assess its acceptability (feasibility of use and face and content validity) to people living with TMAU...
February 7, 2019: Journal of Inherited Metabolic Disease
https://read.qxmd.com/read/30734319/synaptic-energy-metabolism-and-neuronal-excitability-in-sickness-and-in-health
#11
REVIEW
Alfonso Oyarzabal, Isaac Marin-Valencia
Most of the energy produced in the brain is dedicated to supporting synaptic transmission. Glucose is the main fuel, providing energy and carbon skeletons to the cells that execute and support synaptic function: neurons and astrocytes, respectively. It is unclear, however, how glucose is provided to and used by these cells under different levels of synaptic activity. It is even more unclear how diseases that impair glucose uptake and oxidation in the brain alter metabolism in neurons and astrocytes, disrupt synaptic activity, and cause neurological dysfunction, of which seizures are one of the most common clinical manifestations...
February 7, 2019: Journal of Inherited Metabolic Disease
https://read.qxmd.com/read/30724386/hepatic-glutamine-synthetase-augmentation-enhances-ammonia-detoxification
#12
Leandro R Soria, Matthew Nitzahn, Angela De Angelis, Suhail Khoja, Sergio Attanasio, Patrizia Annunziata, Donna J Palmer, Philip Ng, Gerald S Lipshutz, Nicola Brunetti-Pierri
The urea cycle and glutamine synthetase (GS) are the two main pathways for waste nitrogen removal and their deficiency results in hyperammonemia. Here, we investigated the efficacy of liver-specific GS overexpression for therapy of hyperammonemia. To achieve hepatic GS overexpression, we generated a helper-dependent adenoviral (HDAd) vector expressing the murine GS under the control of a liver-specific expression cassette (HDAd-GS). Compared to mice injected with a control vector expressing an unrelated reporter gene (HDAd-AFP), wild-type mice with increased hepatic GS showed reduced blood ammonia levels and a concomitant increase of blood glutamine after intraperitoneal injections of ammonium chloride, whereas blood urea was unaffected...
February 6, 2019: Journal of Inherited Metabolic Disease
https://read.qxmd.com/read/30723942/argininosuccinic-aciduria-recent-pathophysiological-insights-and-therapeutic-prospects
#13
Julien Baruteau, Carmen Diez-Fernandez, Shaul Lerner, Giusy Ranucci, Paul Gissen, Carlo Dionisi-Vici, Sandesh Nagamani, Ayelet Erez, Johannes Häberle
The first patients affected by argininosuccinic aciduria (ASA) were reported 60 years ago. The clinical presentation was initially described as similar to other urea cycle defects, but increasing evidence has shown overtime an atypical systemic phenotype with a paradoxical observation, that is, a higher rate of neurological complications contrasting with a lower rate of hyperammonaemic episodes. The disappointing long-term clinical outcomes of many of the patients have challenged the current standard of care and therapeutic strategy, which aims to normalize plasma ammonia and arginine levels...
February 5, 2019: Journal of Inherited Metabolic Disease
https://read.qxmd.com/read/30714174/an-evolutionary-approach-to-optimizing-glucose-6-phosphatase-%C3%AE-enzymatic-activity-for-gene-therapy-of-glycogen-storage-disease-type-ia
#14
Lisa Zhang, Jun-Ho Cho, Irina Arnaoutova, Brian C Mansfield, Janice Y Chou
Glycogen storage disease type-Ia (GSD-Ia), caused by a deficiency in glucose-6-phosphatase-α (G6Pase-α or G6PC), is characterized by impaired glucose homeostasis with a hallmark hypoglycemia, following a short fast. We have shown that G6pc-deficient (G6pc-/-) mice treated with recombinant adeno-associated virus (rAAV) vectors expressing either wild-type (WT) (rAAV-hG6PC-WT) or codon-optimized (co) (rAAV-co-hG6PC) human (h) G6Pase-α maintain glucose homeostasis if they restore ≥3% of normal hepatic G6Pase-α activity...
February 3, 2019: Journal of Inherited Metabolic Disease
https://read.qxmd.com/read/30714172/comprehensive-characterization-of-ureagenesis-in-the-spf-ash-mouse-a-model-of-human-otc-deficiency-reveals-age-dependency-of-ammonia-detoxification
#15
Gabriella Allegri, Sereina Deplazes, Nicole Rimann, Benjamin Causton, Tanja Scherer, Jonathan W Leff, Carmen Diez-Fernandez, Anna Klimovskaia, Ralph Fingerhut, Jakub Krijt, Viktor Kožich, Jean-Marc Nuoffer, Hiu Man Grisch-Chan, Beat Thöny, Johannes Häberle
The most common ureagenesis defect is X-linked ornithine transcarbamylase (OTC) deficiency which is a main target for novel therapeutic interventions. The spfash mouse model carries a variant (c.386G>A, p.Arg129His) that is also found in patients. Male spfash mice have a mild biochemical phenotype with low OTC activity (5-10% of wild-type), resulting in elevated urinary orotic acid but no hyperammonemia. We recently established a dried blood spot method for in vivo quantification of ureagenesis by GC-MS using stable isotopes...
February 3, 2019: Journal of Inherited Metabolic Disease
https://read.qxmd.com/read/30706953/cerebrospinal-fluid-biogenic-amines-depletion-and-brain-atrophy-in-adult-patients-with-phenylketonuria
#16
Andrea Pilotto, Nenad Blau, Edytha Leks, Claudia Schulte, Christian Deuschl, Carl Zipser, David Piel, Peter Freisinger, Gwendolyn Gramer, Stefan Kölker, Dorothea Haas, Peter Burgard, Peter Nawroth, Hoffmann Georg, Klaus Scheffler, Daniela Berg, Friedrich Trefz
Biogenic amines synthesis in phenylketonuria (PKU) patients with high phenylalanine (Phe) concentration is thought to be impaired due to inhibition of tyrosine and tryptophan hydroxylases and competition with amino acids at the blood-brain barrier. Dopamine and serotonin deficits might explain brain damage and progressive neuropsychiatric impairment in adult PKU patients. Ten early treated adult PKU patients (mean age 38.2 years) and 15 age-matched controls entered the study. Plasma and cerebrospinal fluid (CSF) Phe, 5-hydroxyindoleacetic acid (5-HIAA), 5-hydroxytryptophan (5-HTP), 3,4-dihydroxy-l-phenylalanine (l-DOPA) and homovanillic acid (HVA) were analyzed...
February 1, 2019: Journal of Inherited Metabolic Disease
https://read.qxmd.com/read/30690773/the-neurological-and-psychological-phenotype-of-adult-patients-with-early-treated-phenylketonuria-a-systematic-review
#17
REVIEW
Alessandro P Burlina, Robin H Lachmann, Renzo Manara, Chiara Cazzorla, Andrea Celato, Francjan J van Spronsen, Alberto Burlina
Newborn screening for phenylketonuria and early introduction of dietary therapy has been remarkably successful in preventing the severe neurological features of phenylketonuria, including mental retardation and epilepsy. However, concerns remain that long-term outcome is still suboptimal, particularly in adult patients who are no longer on strict phenylalanine-restricted diets. With our systematic literature review we aimed to describe the neurological phenotype of adults with early-treated phenylketonuria (ETPKU)...
January 28, 2019: Journal of Inherited Metabolic Disease
https://read.qxmd.com/read/30684275/opening-a-window-on-lysosomal-acid-lipase-deficiency-biochemical-molecular-and-epidemiological-insights
#18
Gerarda Cappuccio, Taraka R Donti, Leroy Hubert, Qin Sun, Sarah H Elsea
OBJECTIVE: Lysosomal acid lipase deficiency (LAL-D) is a multi-organ autosomal recessive disease caused by mutations in LIPA. STUDY DESIGN: We reviewed data from 681 samples (white blood cells (WBC) n=625, fibroblasts =30, liver =4, amniocytes =13, chorionic villus =9) received for analysis of lysosomal acid lipase (LAL) activity over a 15-year period. LIPA sequencing was performed in 49 patients with reduced (n=26) or deficient (n=23) LAL activity. The Exome Aggregation Consortium (ExAc) dataset has been used for LAL-D prevalence calculation...
January 25, 2019: Journal of Inherited Metabolic Disease
https://read.qxmd.com/read/30680745/disorders-of-riboflavin-metabolism
#19
Shanti Balasubramaniam, John Christodoulou, Shamima Rahman
Riboflavin (vitamin B2), a water-soluble vitamin, is an essential nutrient in higher organisms as it is not endogenously synthesized, with requirements being met principally by dietary intake. Tissue-specific transporter proteins direct riboflavin to the intracellular machinery responsible for the biosynthesis of the flavocoenzymes flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD). These flavocoenzymes play a vital role in ensuring the functionality of a multitude of flavoproteins involved in bioenergetics, redox homeostasis, DNA repair, chromatin remodelling, protein folding, apoptosis and other physiologically relevant processes...
January 24, 2019: Journal of Inherited Metabolic Disease
https://read.qxmd.com/read/30671987/aceruloplasminemia-neurodegeneration-with-brain-iron-accumulation-nbia-associated-with-psychosis
#20
L H P Vroegindeweij, A J W Boon, J H P Wilson, J G Langendonk
Inborn errors of metabolism (IEM) are associated with various psychiatric manifestations. As reported by Trakadis et al., psychosis can be a predominant feature or even isolated presenting manifestation of IEM (Trakadis et al 2018). We read with great interest the authors' overview of IEM that may be phenotypically difficult to distinguish from psychiatric illness. Within the group of metal storage disorders, pantothenate kinase-associated neurodegeneration (PKAN) and neuroferritinopathy represent two forms of neurodegeneration with brain iron accumulation (NBIA) that have been associated with psychosis...
January 22, 2019: Journal of Inherited Metabolic Disease
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