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Journal of Inherited Metabolic Disease

Thomas Reed, Roi Cohen Kadosh
In this review, we describe transcranial electrical stimulation (tES) techniques currently being used in neuroscientific research, including transcranial direct current (tDCS), alternating current (tACS) and random noise (tRNS) stimulation techniques. We explain how these techniques are used and summarise the proposed mechanisms of action for each technique. We continue by describing how each method has been used to alter endogenous neuronal oscillations and connectivity between brain regions, and we conclude by highlighting the varying effects of stimulation and discussing the future direction of these stimulation techniques in research...
July 13, 2018: Journal of Inherited Metabolic Disease
Jerry Vockley, Barbara Burton, Gerard T Berry, Nicola Longo, John Phillips, Amarilis Sanchez-Valle, Pranoot Tanpaiboon, Stephanie Grunewald, Elaine Murphy, Alexandra Bowden, Wencong Chen, Chao-Yin Chen, Jason Cataldo, Deborah Marsden, Emil Kakkis
Long-chain fatty acid oxidation disorders (LC-FAOD) are rare disorders characterized by acute crises of energy metabolism and severe energy deficiency that may present with cardiomyopathy, hypoglycemia, and/or rhabdomyolysis, which can lead to frequent hospitalizations and early death. An open-label Phase 2 study evaluated the efficacy of UX007, an investigational odd-carbon medium-chain triglyceride, in 29 subjects with severe LC-FAOD. UX007 was administered over 78 weeks at a target dose of 25-35% total daily caloric intake (mean 27...
July 9, 2018: Journal of Inherited Metabolic Disease
Sabine Jung-Klawitter, Thomas Opladen
The ability to reprogram somatic cells to induced pluripotent stem cells (iPSCs) has revolutionized the way of modeling human disease. Especially for the modeling of rare human monogenetic diseases with limited numbers of patients available worldwide and limited access to the mostly affected tissues, iPSCs have become an invaluable tool. To study rare diseases affecting neurotransmitter biosynthesis and neurotransmission, stem cell models carrying patient-specific mutations have become highly important as most of the cell types present in the human brain and the central nervous system (CNS), including motoneurons, neurons, oligodendrocytes, astrocytes, and microglia, can be differentiated from iPSCs following distinct developmental programs...
July 6, 2018: Journal of Inherited Metabolic Disease
Young Bae Sohn, Ah-Ra Ko, Mi-Ran Seong, Soyeon Lee, Mi Ra Kim, Sung Yoon Cho, Jung-Sun Kim, Makoto Sakaguchi, Takahiro Nakazawa, Motomichi Kosuga, Joo Hyun Seo, Torayuki Okuyama, Dong-Kyu Jin
Mucopolysaccharidosis II (MPS II) is caused by a deficiency of iduronate-2-sulfatase that results in accumulation of glycosaminoglycans (GAG), including heparan sulfate (HS), which is considered to contribute to neuropathology. We examined the efficacy of intracerebroventricular (ICV) enzyme replacement therapy (ERT) of idursulfase-beta (IDS-β) and evaluated the usefulness of HS as a biomarker for neuropathology in MPS II mice. We first examined the efficacy of three different doses (3, 10, and 30 μg) of single ICV injections of IDS-β in MPS II mice...
July 5, 2018: Journal of Inherited Metabolic Disease
Marta Batllori, Marta Molero-Luis, Aida Ormazabal, Raquel Montero, Cristina Sierra, Antonia Ribes, Julio Montoya, Eduardo Ruiz-Pesini, Mar O'Callaghan, Leticia Pias, Andrés Nascimento, Francesc Palau, Judith Armstrong, Delia Yubero, Juan D Ortigoza-Escobar, Angels García-Cazorla, Rafael Artuch
Mitochondrial diseases are a group of genetic disorders leading to the dysfunction of mitochondrial energy metabolism pathways. We aimed to assess the clinical phenotype and the biochemical cerebrospinal fluid (CSF) biogenic amine profiles of patients with different diagnoses of genetic mitochondrial diseases. We recruited 29 patients with genetically confirmed mitochondrial diseases harboring mutations in either nuclear or mitochondrial DNA (mtDNA) genes. Signs and symptoms of impaired neurotransmission and neuroradiological data were recorded...
July 4, 2018: Journal of Inherited Metabolic Disease
Roland Posset, Sven F Garbade, Nikolas Boy, Alberto B Burlina, Carlo Dionisi-Vici, Dries Dobbelaere, Angeles Garcia-Cazorla, Pascale de Lonlay, Elisa Leão Teles, Roshni Vara, Nicholas Ah Mew, Mark L Batshaw, Matthias R Baumgartner, Shawn McCandless, Jennifer Seminara, Marshall Summar, Georg F Hoffmann, Stefan Kölker, Peter Burgard
BACKGROUND: To improve our understanding of urea cycle disorders (UCDs) prospectively followed by two North American (NA) and European (EU) patient cohorts. AIMS: Description of the NA and EU patient samples and investigation of the prospects of combined and comparative analyses for individuals with UCDs. METHODS: Retrieval and comparison of the data from 1095 individuals (NA: 620, EU: 475) from two electronic databases. RESULTS: The proportion of females with ornithine transcarbamylase deficiency (fOTC-D), particularly those being asymptomatic (asfOTC-D), was higher in the NA than in the EU sample...
July 4, 2018: Journal of Inherited Metabolic Disease
Federica Raggi, Anna Livia Pissavino, Roberta Resaz, Daniela Segalerba, Andrea Puglisi, Cristina Vanni, Francesca Antonini, Genny Del Zotto, Alessandra Gamberucci, Paola Marcolongo, Maria Carla Bosco, Federica Grillo, Luca Mastracci, Alessandra Eva
BACKGROUND AND AIMS: Glycogen storage disease type Ib (GSD1b) is a rare metabolic and immune disorder caused by a deficiency in the glucose-6-phosphate transporter (G6PT) and characterized by impaired glucose homeostasis, myeloid dysfunction, and long-term risk of hepatocellular adenomas. Despite maximal therapy, based on a strict diet and on granulocyte colony-stimulating factor treatment, long-term severe complications still develop. Understanding the pathophysiology of GSD1b is a prerequisite to develop new therapeutic strategies and depends on the availability of animal models...
July 2, 2018: Journal of Inherited Metabolic Disease
Jyoti Halai
No abstract text is available yet for this article.
July 2, 2018: Journal of Inherited Metabolic Disease
Tamas Kozicz, E Morava
No abstract text is available yet for this article.
June 28, 2018: Journal of Inherited Metabolic Disease
Judit Núñez-Manchón, Alfonsina Ballester-Lopez, Emma Koehorst, Ian Linares-Pardo, Daniëlle Coenen, Ignacio Ara, Carlos Rodriguez-Lopez, Alba Ramos-Fransi, Alicia Martínez-Piñeiro, Giuseppe Lucente, Miriam Almendrote, Jaume Coll-Cantí, Guillem Pintos-Morell, Alejandro Santos Lozano, Joaquin Arenas, Miguel Angel Martín, Mauricio de Castro, Alejandro Lucia, Alfredo Santalla, Gisela Nogales-Gadea
McArdle disease is an autosomal recessive condition caused by deficiency of the PYGM gene-encoded muscle isoform of glycogen phosphorylase. Some cases of "manifesting" heterozygotes or carriers (i.e., patients who show some McArdle-like symptoms or signs despite being carriers of only one mutated PYGM allele) have been reported in the literature but there is controversy, with misdiagnosis being a possibility. The purpose of our study was to determine if there are actually "manifesting" heterozygotes of McArdle disease and, if existing, whether statin treatment can trigger such condition...
June 20, 2018: Journal of Inherited Metabolic Disease
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...
June 20, 2018: Journal of Inherited Metabolic Disease
R Keller, P Chrastina, M Pavlíková, S Gouveia, A Ribes, S Kölker, H J Blom, M R Baumgartner, J Bártl, C Dionisi Vici, F Gleich, A A Morris, V Kožich, M Huemer, I Barić, T Ben-Omran, J Blasco-Alonso, M A Bueno Delgado, C Carducci, M Cassanello, R Cerone, M L Couce, E Crushell, C Delgado Pecellin, E Dulin, M Espada, G Ferino, R Fingerhut, I Garcia Jimenez, I Gonzalez Gallego, Y González-Irazabal, G Gramer, M J Juan Fita, E Karg, J Klein, V Konstantopoulou, G la Marca, E Leão Teles, V Leuzzi, F Lilliu, R M Lopez, A M Lund, P Mayne, S Meavilla, S J Moat, J G Okun, E Pasquini, C Pedron-Giner, G Z Racz, M A Ruiz Gomez, L Vilarinho, R Yahyaoui, M Zerjav Tansek, R H Zetterström, M Zeyda
PURPOSE: To assess how the current practice of newborn screening (NBS) for homocystinurias compares with published recommendations. METHODS: Twenty-two of 32 NBS programmes from 18 countries screened for at least one form of homocystinuria. Centres provided pseudonymised NBS data from patients with cystathionine beta-synthase deficiency (CBSD, n = 19), methionine adenosyltransferase I/III deficiency (MATI/IIID, n = 28), combined remethylation disorder (cRMD, n = 56) and isolated remethylation disorder (iRMD), including methylenetetrahydrofolate reductase deficiency (MTHFRD) (n = 8)...
June 15, 2018: Journal of Inherited Metabolic Disease
Lucia Abela, Manju A Kurian
Movement disorders comprise a group of heterogeneous diseases with often complex clinical phenotypes. Overlapping symptoms and a lack of diagnostic biomarkers may hamper making a definitive diagnosis. Next-generation sequencing techniques have substantially contributed to unraveling genetic etiologies underlying movement disorders and thereby improved diagnoses. Defects in dopaminergic signaling in postsynaptic striatal medium spiny neurons are emerging as a pathogenic mechanism in a number of newly identified hyperkinetic movement disorders...
June 13, 2018: Journal of Inherited Metabolic Disease
Vamsi K Mootha, Patrick F Chinnery
No abstract text is available yet for this article.
June 8, 2018: Journal of Inherited Metabolic Disease
Jean-Marie Saudubray, Fanny Mochel
Until recently, inborn errors of metabolism (IEM) were considered a pediatric specialty, as emphasized by the term "inborn," and the concept of adult onset IEM has only very recently reached the adult medical community. Still, an increasing number of adult onset IEM have now been recognized, as new metabolomics and molecular diagnostic techniques have become available. Here, we discuss possible mechanisms underlying phenotypic variability in adult versus children with IEM. Specifically, phenotypic severity and age of onset are expected to be modulated by differences in residual protein activity possibly driven by various genetic factors...
June 6, 2018: Journal of Inherited Metabolic Disease
David Brossier, Isabelle Goyer, Lydia Ziani, Christopher Marquis, Grant Mitchell, Bruno Ozanne, Philippe Jouvet
The purpose of the study was to evaluate the influence of establishing a protocol for the use of combined sodium benzoate and sodium phenylacetate (SBSP) (Ammonul®) to treat acute hyperammonemia. This was a retrospective, single-center study in a 24-bed medical and surgical pediatric intensive care unit (PICU) in a tertiary care teaching maternal-child hospital in Canada. Inclusion criteria were age <18 years, PICU admission between 1 January 2000 and 30 June 2016, and SBSP treatment. An SBSP delivery protocol was implemented in our hospital on 30 August 2008 in order to improve management of acute hyperammonemia...
June 5, 2018: Journal of Inherited Metabolic Disease
Joanne Milverton, Skye Newton, Tracy Merlin
AIM: The objective of this research was to determine the effectiveness of enzyme replacement therapy for juvenile-onset Pompe disease (patients aged 2 to 18 years at symptom onset) by systematic review. METHODS: A systematic search was conducted according to a protocol designed a priori of bibliographic databases and search engines. Studies selected according to pre-specified criteria were assessed for quality and risk of bias using standardised appraisal tools...
June 5, 2018: Journal of Inherited Metabolic Disease
Stefan Kölker
Amino acids are involved in various metabolic pathways and some of them also act as neurotransmitters. Since biosynthesis of L-glutamate and γ-aminobutyric acid (GABA) requires 2-oxoglutarate while 3-phosphoglycerate is the precursor of L-glycine and D-serine, evolutionary selection of these amino acid neurotransmitters might have been driven by their capacity to provide important information about the glycolytic pathway and Krebs cycle. Synthesis and recycling of amino acid neurotransmitters as well as composition and function of their receptors are often compromised in inherited metabolic diseases...
June 4, 2018: Journal of Inherited Metabolic Disease
Monika Gjorgjieva, Laure Monteillet, Julien Calderaro, Gilles Mithieux, Fabienne Rajas
Glycogen storage disease type I (GSDI) is a rare genetic pathology characterized by glucose-6 phosphatase (G6Pase) deficiency, translating in hypoglycemia during short fasts. Besides metabolic perturbations, GSDI patients develop long-term complications, especially chronic kidney disease (CKD). In GSDI patients, CKD is characterized by an accumulation of glycogen and lipids in kidneys, leading to a gradual decline in renal function. At a molecular level, the activation of the renin-angiotensin system is responsible for the development of renal fibrosis, eventually leading to renal failure...
June 4, 2018: Journal of Inherited Metabolic Disease
Fanny Mochel
Synaptic functions have long been thought to be driven by proteins, especially the SNARE complex, contrasting with a relatively passive role for lipids constituting cell membranes. It is now clear that not only lipids, i.e. glycerophospholipids, sphingolipids and sterols, play a determinant role in the dynamics of synaptic membranes but they also actively contribute to the endocytosis and exocytosis of synaptic vesicles in conjunction with synaptic proteins. On the other hand, a growing number of inborn errors of metabolism affecting the nervous system have been related to defects in the synthesis and remodelling of fatty acids, phospholipids and sphingolipids...
June 4, 2018: Journal of Inherited Metabolic Disease
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