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Journal of Inherited Metabolic Disease

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https://www.readbyqxmd.com/read/29767814/inborn-errors-of-coenzyme-a-metabolism-and-neurodegeneration
#1
Ivano Di Meo, Miryam Carecchio, Valeria Tiranti
Two inborn errors of coenzyme A (CoA) metabolism are responsible for distinct forms of neurodegeneration with brain iron accumulation (NBIA), a heterogeneous group of neurodegenerative diseases having as a common denominator iron accumulation mainly in the inner portion of globus pallidus. Pantothenate kinase-associated neurodegeneration (PKAN), an autosomal recessive disorder with progressive impairment of movement, vision and cognition, is the most common form of NBIA and is caused by mutations in the pantothenate kinase 2 gene (PANK2), coding for a mitochondrial enzyme, which phosphorylates vitamin B5 in the first reaction of the CoA biosynthetic pathway...
May 16, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29766340/the-cholic-acid-extension-study-in-zellweger-spectrum-disorders-results-and-implications-for-therapy
#2
Femke C C Klouwer, Bart G P Koot, Kevin Berendse, Elles M Kemper, Sacha Ferdinandusse, Kiran V K Koelfat, Martin Lenicek, Frédéric M Vaz, Marc Engelen, Peter L M Jansen, Ronald J A Wanders, Hans R Waterham, Frank G Schaap, Bwee Tien Poll-The
INTRODUCTION: Currently, no therapies are available for Zellweger spectrum disorders (ZSDs), a group of genetic metabolic disorders characterised by a deficiency of functional peroxisomes. In a previous study, we showed that oral cholic acid (CA) treatment can suppress bile acid synthesis in ZSD patients and, thereby, decrease plasma levels of toxic C27 -bile acid intermediates, one of the biochemical abnormalities in these patients. However, no effect on clinically relevant outcome measures could be observed after 9 months of CA treatment...
May 15, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29740775/evaluation-of-plasma-biomarkers-of-inflammation-in-patients-with-maple-syrup-urine-disease
#3
Giselli Scaini, Tássia Tonon, Carolina F Moura de Souza, Patricia F Schuck, Gustavo C Ferreira, João Quevedo, João Seda Neto, Tatiana Amorim, Jose S Camelo, Ana Vitoria Barban Margutti, Rafael Hencke Tresbach, Fernanda Sperb-Ludwig, Raquel Boy, Paula F V de Medeiros, Ida Vanessa D Schwartz, Emilio Luiz Streck
Maple syrup urine disease (MSUD) is an autosomal recessive inherited disorder that affects branched-chain amino acid (BCAA) catabolism and is associated with acute and chronic brain dysfunction. Recent studies have shown that inflammation may be involved in the neuropathology of MSUD. However, these studies have mainly focused on single or small subsets of proteins or molecules. Here we performed a case-control study, including 12 treated-MSUD patients, in order to investigate the plasmatic biomarkers of inflammation, to help to establish a possible relationship between these biomarkers and the disease...
May 8, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29740774/sirtuin-signaling-controls-mitochondrial-function-in-glycogen-storage-disease-type-ia
#4
Jun-Ho Cho, Goo-Young Kim, Brian C Mansfield, Janice Y Chou
Glycogen storage disease type Ia (GSD-Ia) deficient in glucose-6-phosphatase-α (G6Pase-α) is a metabolic disorder characterized by impaired glucose homeostasis and a long-term complication of hepatocellular adenoma/carcinoma (HCA/HCC). Mitochondrial dysfunction has been implicated in GSD-Ia but the underlying mechanism and its contribution to HCA/HCC development remain unclear. We have shown that hepatic G6Pase-α deficiency leads to downregulation of sirtuin 1 (SIRT1) signaling that underlies defective hepatic autophagy in GSD-Ia...
May 8, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29736632/in-memoriam
#5
LETTER
Johan L K Van Hove, Janet A Thomas, Peter R Baker, Austin A Larson
No abstract text is available yet for this article.
May 7, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29725868/comprehensive-long-term-efficacy-and-safety-of-recombinant-human-alpha-mannosidase-velmanase-alfa-treatment-in-patients-with-alpha-mannosidosis
#6
Allan M Lund, Line Borgwardt, Federica Cattaneo, Diego Ardigò, Silvia Geraci, Mercedes Gil-Campos, Linda De Meirleir, Cécile Laroche, Philippe Dolhem, Duncan Cole, Anna Tylki-Szymanska, Monica Lopez-Rodriguez, Encarna Guillén-Navarro, Christine I Dali, Bénédicte Héron, Jens Fogh, Nicole Muschol, Dawn Phillips, J M Hannerieke Van den Hout, Simon A Jones, Yasmina Amraoui, Paul Harmatz, Nathalie Guffon
INTRODUCTION: Long-term outcome data provide important insights into the clinical utility of enzyme replacement therapies. Such data are presented for velmanase alfa in the treatment of alpha-mannosidosis (AM). METHODS: Patient data (n = 33; 14 adults, 19 paediatric) from the clinical development programme for velmanase alfa were integrated in this prospectively-designed analysis of long-term efficacy and safety. Patients who participated in the phase I/II or phase III trials and were continuing to receive treatment after completion of the trials were invited to participate in a comprehensive evaluation visit to assess long-term outcomes...
May 3, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29721919/severe-ichthyosis-in-mpdu1-cdg
#7
Christian Thiel, Saskia Wortmann, Korbinian Riedhammer, Bader Alhaddad, Ertan Mayatepek, Holger Prokisch, Felix Distelmaier
Congenital disorders of glycosylation (CDG) have a broad spectrum of clinical manifestations. They can affect multiple organ systems, including skin and subcutaneous tissue. We report on an infant with severe ichthyosis caused by MPDU1 mutations. The case illustrates that skin manifestations are an important feature of CDG syndromes. Therefore, metabolic investigations should be included in the workup of infantile ichthyosis disorders.
May 2, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29721918/patterns-evolution-and-severity-of-striatal-injury-in-insidious-versus-acute-onset-glutaric-aciduria-type-1
#8
Nikolas Boy, Sven F Garbade, Jana Heringer, Angelika Seitz, Stefan Kölker, Inga Harting
BACKGROUND: Striatal injury in patients with glutaric aciduria type 1 (GA1) results in a complex, predominantly dystonic, movement disorder. Onset may be acute following acute encephalopathic crisis (AEC) or insidious without apparent acute event. METHODS: We analyzed clinical and striatal magnetic resonance imaging (MRI) findings in 21 symptomatic GA1 patients to investigate if insidious- and acute-onset patients differed in timing, pattern of striatal injury, and outcome...
May 2, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29721917/presentation-progression-and-predictors-of-ovarian-insufficiency-in-classic-galactosemia
#9
Allison B Frederick, Alison M Zinsli, Grace Carlock, Karen Conneely, Judith L Fridovich-Keil
Classic galactosemia (CG) is an inherited metabolic disorder that affects about 1 in 50,000 live births in the United States and many other countries. With the benefit of early detection by newborn screening and rapid dietary restriction of galactose, generally achieved by removing dairy from the diet, most affected infants are spared the acute and potentially lethal symptoms of disease. Despite early detection and life-long dietary intervention, however, most patients grow to experience a constellation of long-term complications that include premature ovarian insufficiency in the vast majority of girls and young women...
May 2, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29721916/integration-of-genomics-and-metabolomics-for-prioritization-of-rare-disease-variants-a-2018-literature-review
#10
Emma Graham, Jessica Lee, Magda Price, Maja Tarailo-Graovac, Allison Matthews, Udo Engelke, Jeffrey Tang, Leo A J Kluijtmans, Ron A Wevers, Wyeth W Wasserman, Clara D M van Karnebeek, Sara Mostafavi
Many inborn errors of metabolism (IEMs) are amenable to treatment; therefore, early diagnosis and treatment is imperative. Despite recent advances, the genetic basis of many metabolic phenotypes remains unknown. For discovery purposes, whole exome sequencing (WES) variant prioritization coupled with clinical and bioinformatics expertise is the primary method used to identify novel disease-causing variants; however, causation is often difficult to establish due to the number of plausible variants. Integrated analysis of untargeted metabolomics (UM) and WES or whole genome sequencing (WGS) data is a promising systematic approach for identifying disease-causing variants...
May 2, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29721915/clinical-biochemical-and-molecular-overview-of-transaldolase-deficiency-and-evaluation-of-the-endocrine-function-update-of-34-patients
#11
M Williams, V Valayannopoulos, R Altassan, W K Chung, A C Heijboer, W T Keng, R Lapatto, P McClean, M F Mulder, A Tylki-Szymańska, M J E Walenkamp, M Alfadhel, H Alakeel, G S Salomons, W Eyaid, M M C Wamelink
BACKGROUND: Transaldolase deficiency (TALDO-D) is a rare autosomal recessive inborn error of the pentose phosphate pathway. Since its first description in 2001, several case reports have been published, but there has been no comprehensive overview of phenotype, genotype, and phenotype-genotype correlation. METHODS: We performed a retrospective questionnaire and literature study of clinical, biochemical, and molecular data of 34 patients from 25 families with proven TALDO-D...
May 2, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29704188/mucolipidosis-type-iii-a-series-of-adult-patients
#12
Esmee Oussoren, David van Eerd, Elaine Murphy, Robin Lachmann, Jan C van der Meijden, Lies H Hoefsloot, Rob Verdijk, George J G Ruijter, Mario Maas, Carla E M Hollak, Janneke G Langendonk, Ans T van der Ploeg, Mirjam Langeveld
BACKGROUND: Mucolipidosis type III α/β or γ (MLIII) are rare autosomal recessive diseases, in which reduced activity of the enzyme UDP-N-acetyl glucosamine-1-phosphotransferase (GlcNAc-PTase) leads to intra-lysosomal accumulation of different substrates. Publications on the natural history of MLIII, especially the milder forms, are scarce. This study provides a detailed description of the disease characteristics and its natural course in adult patients with MLIII. METHODS: In this retrospective chart study, the clinical, biochemical and molecular findings in adult patients with a confirmed diagnosis of MLIII from three treatment centres were collected...
April 27, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29675607/medical-and-financial-burden-of-acute-intermittent-porphyria
#13
Rochus A Neeleman, Margreet A E M Wagenmakers, Rita H Koole-Lesuis, G Sophie Mijnhout, J H Paul Wilson, Edith C H Friesema, Janneke G Langendonk
INTRODUCTION: A small proportion of patients with acute intermittent porphyria (AIP) suffer from recurrent porphyric attacks, with a severely diminished quality of life. In this retrospective case-control study, the burden of disease is quantified and compared among three AIP patient subgroups: cases with recurrent attacks, cases with one or occasional attacks and asymptomatic carriers. METHODS: Data from patient records and questionnaires were collected in patients between 1960 and 2016 at the Erasmus Medical Center, Rotterdam, the Netherlands...
April 19, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29671189/intrafamilial-oocyte-donation-in-classic-galactosemia-ethical-and-societal-aspects
#14
M Haskovic, W J Poot, R J T van Golde, S H Benneheij, E Oussoren, G M W R de Wert, A Krumeich, M Estela Rubio-Gozalbo
Classic galactosemia is a rare inherited disorder of galactose metabolism. Primary ovarian insufficiency (POI) with subfertility affects > 80% of female patients and is an important concern for patients and their parents. Healthcare providers are often consulted for subfertility treatment possibilities. An option brought up by the families is intrafamilial oocyte donation (mother-to-daughter or sister-to-sister). In addition to POI, galactosemia patients can also present varying cognitive and neurological impairments, which may not be fully clear at the time when mother-to-daughter oocyte donation is considered...
April 18, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29663270/molecular-biology-and-gene-therapy-for-glycogen-storage-disease-type-ib
#15
Janice Y Chou, Jun-Ho Cho, Goo-Young Kim, Brian C Mansfield
Glycogen storage disease type Ib (GSD-Ib) is caused by a deficiency in the ubiquitously expressed glucose-6-phosphate (G6P) transporter (G6PT or SLC37A4). The primary function of G6PT is to translocate G6P from the cytoplasm into the lumen of the endoplasmic reticulum (ER). Inside the ER, G6P is hydrolyzed to glucose and phosphate by either the liver/kidney/intestine-restricted glucose-6-phosphatase-α (G6Pase-α) or the ubiquitously expressed G6Pase-β. A deficiency in G6Pase-α causes GSD type Ia (GSD-Ia) and a deficiency in G6Pase-β causes GSD-I-related syndrome (GSD-Irs)...
April 16, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29663269/the-role-of-the-human-metabolome-database-in-inborn-errors-of-metabolism
#16
REVIEW
Rupasri Mandal, Danuta Chamot, David S Wishart
Metabolomics holds considerable promise to advance our understanding of human disease, including our understanding of inborn errors of metabolism (IEM). The application of metabolomics in IEM research has already led to the discovery of several novel IEMs and the identification of novel IEM biomarkers. However, with hundreds of known IEMs and more than 700 associated IEM metabolites, it is becoming increasingly challenging for clinical researchers to keep track of IEMs, their associated metabolites, and their corresponding metabolic mechanisms...
April 16, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29663268/dental-and-periodontal-manifestations-of-glycogen-storage-diseases-a-case-series-of-60-patients
#17
Martin Biosse Duplan, Aurélie Hubert, Elvire Le Norcy, Alice Louzoun, Ariane Perry, Catherine Chaussain, Philippe Labrune
Glycogen storage diseases (GSDs) are rare genetic disorders of glycogen metabolism where the liver, kidneys, respiratory and cardiac muscles, as well as the immune and skeletal systems can be affected. Oral manifestations can also be present, but the specificity and frequency of these manifestations in the different forms of GSD are unknown. Analysis of a case series of 60 patients presenting four types of GSD (Ia, Ib, III, and IX) showed that the different types of GSDs have common and specific oral manifestations...
April 16, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29654385/recognizable-phenotypes-in-cdg
#18
Carlos R Ferreira, Ruqaia Altassan, Dorinda Marques-Da-Silva, Rita Francisco, Jaak Jaeken, Eva Morava
Pattern recognition, using a group of characteristic, or discriminating features, is a powerful tool in metabolic diagnostic. A classic example of this approach is used in biochemical analysis of urine organic acid analysis, where the reporting depends more on the correlation of pertinent positive and negative findings, rather than on the absolute values of specific markers. Similar uses of pattern recognition in the field of biochemical genetics include the interpretation of data obtained by metabolomics, like glycomics, where a recognizable pattern or the presence of a specific glycan sub-fraction can lead to the direct diagnosis of certain types of congenital disorders of glycosylation...
April 13, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29651749/medium-chain-triglycerides-supplement-therapy-with-a-low-carbohydrate-formula-can-supply-energy-and-enhance-ammonia-detoxification-in-the-hepatocytes-of-patients-with-adult-onset-type-ii-citrullinemia
#19
Kiyoshi Hayasaka, Chikahiko Numakura, Mitsunori Yamakawa, Tetsuo Mitsui, Hisayoshi Watanabe, Hiroaki Haga, Masahide Yazaki, Hiromasa Ohira, Yasuo Ochiai, Toshiyuki Tahara, Tamio Nakahara, Noriyo Yamashiki, Takahiro Nakayama, Takashi Kon, Hiroshi Mitsubuchi, Hiroshi Yoshida
Citrin, encoded by SLC25A13, constitutes the malate-aspartate shuttle, the main NADH-shuttle in the liver. Citrin deficiency causes neonatal intrahepatic cholestasis (NICCD) and adult-onset type II citrullinemia (CTLN2). Citrin deficiency is predicted to impair hepatic glycolysis and de novo lipogenesis, resulting in hepatic energy deficit. Secondary decrease in hepatic argininosuccinate synthetase (ASS1) expression has been considered a cause of hyperammonemia in CTLN2. We previously reported that medium-chain triglyceride (MCT) supplement therapy with a low-carbohydrate formula was effective in CTLN2 to prevent a relapse of hyperammonemic encephalopathy...
April 12, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29633062/the-decision-to-discontinue-screening-for-carnitine-uptake-disorder-in-new-zealand
#20
Callum Wilson, Detlef Knoll, Mark de Hora, Campbell Kyle, Emma Glamuzina, Dianne Webster
When screening for carnitine uptake disorder (CUD), the New Zealand (NZ) newborn screening (NBS) service identified infants as screen-positive if they had initial and repeat free carnitine (C0) levels of less than 5.0 μmol/L. Since 2006, the NBS service has identified two infants with biochemical and genetic features consistent with neonatal CUD and nine mothers with features consistent with maternal CUD. A review of the literature suggests that these nine women reflect less than half the true prevalence and that CUD is relatively common...
April 9, 2018: Journal of Inherited Metabolic Disease
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