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https://www.readbyqxmd.com/read/28938278/whole-exome-sequencing-in-inborn-errors-of-immunity-use-the-power-but-mind-the-limits
#1
Giorgia Bucciol, Erika Van Nieuwenhove, Leen Moens, Yuval Itan, Isabelle Meyts
PURPOSE OF REVIEW: Next-generation sequencing, especially whole exome sequencing (WES), has revolutionized the molecular diagnosis of inborn errors of immunity. This review summarizes the generation and analysis of next-generation sequencing data. RECENT FINDINGS: The focus is on prioritizing strategies for unveiling the potential disease-causing variant. We also highlighted oversights and imperfections of WES and targeted panel sequencing, as well as the need for functional validation...
September 21, 2017: Current Opinion in Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28932969/primary-ovarian-insufficiency-in-classic-galactosemia-current-understanding-and-future-research-opportunities
#2
REVIEW
Mili Thakur, Gerald Feldman, Elizabeth E Puscheck
Classic galactosemia is an inborn error of the metabolism with devastating consequences. Newborn screening has been successful in markedly reducing the acute neonatal symptoms from this disorder. The dramatic response to dietary treatment is one of the major success stories of newborn screening. However, as children with galactosemia achieve adulthood, they face long-term complications. A majority of women with classic galactosemia develop primary ovarian insufficiency and resulting morbidity. The underlying pathophysiology of this complication is not clear...
September 20, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28920014/plasma-fibroblast-growth-factor-21-levels-in-patients-with-inborn-errors-of-metabolism
#3
Brian Kirmse, Juan Cabrerra-Luque, Omar Ayyub, Kristina Cusmano, Kimberly Chapman, Marshall Summar
Fibroblast growth factor-21 (FGF21) levels are elevated in patients with primary mitochondrial disorders but have not been studied in patients with inborn errors of metabolism (IEM) known to have secondary mitochondrial dysfunction. We measured plasma FGF21 by ELISA in patients with and without IEM. FGF21 levels were higher in patients with IEM compared to without IEM (370 pg/dL vs. 0-65 pg/dL). Further study of FGF21 as a biomarker in IEM is warranted.
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28919799/maple-syrup-urine-disease-mechanisms-and-management
#4
REVIEW
Patrick R Blackburn, Jennifer M Gass, Filippo Pinto E Vairo, Kristen M Farnham, Herjot K Atwal, Sarah Macklin, Eric W Klee, Paldeep S Atwal
Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by defects in the branched-chain α-ketoacid dehydrogenase complex, which results in elevations of the branched-chain amino acids (BCAAs) in plasma, α-ketoacids in urine, and production of the pathognomonic disease marker, alloisoleucine. The disorder varies in severity and the clinical spectrum is quite broad with five recognized clinical variants that have no known association with genotype. The classic presentation occurs in the neonatal period with developmental delay, failure to thrive, feeding difficulties, and maple syrup odor in the cerumen and urine, and can lead to irreversible neurological complications, including stereotypical movements, metabolic decompensation, and death if left untreated...
2017: Application of Clinical Genetics
https://www.readbyqxmd.com/read/28914984/hypercalcemic-disorders-in-children
#5
REVIEW
Victoria J Stokes, Morten F Nielsen, Fadil M Hannan, Rajesh V Thakker
Hypercalcemia is defined as a serum calcium concentration that is greater than 2 standard deviations above the normal mean, which in children may vary with age and sex, reflecting changes in the normal physiology at each developmental stage. Hypercalcemic disorders in children may present with hypotonia, poor feeding, vomiting, constipation, abdominal pain, lethargy, polyuria, dehydration, failure to thrive and seizures. In severe cases renal failure, pancreatitis and reduced consciousness may also occur and older children and adolescents may present with psychiatric symptoms...
September 15, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28912186/cardiomyopathies-due-to-left-ventricular-noncompaction-mitochondrial-and-storage-diseases-and-inborn-errors-of-metabolism
#6
REVIEW
Jeffrey A Towbin, John Lynn Jefferies
The normal function of the human myocardium requires the proper generation and utilization of energy and relies on a series of complex metabolic processes to achieve this normal function. When metabolic processes fail to work properly or effectively, heart muscle dysfunction can occur with or without accompanying functional abnormalities of other organ systems, particularly skeletal muscle. These metabolic derangements can result in structural, functional, and infiltrative deficiencies of the heart muscle. Mitochondrial and enzyme defects predominate as disease-related etiologies...
September 15, 2017: Circulation Research
https://www.readbyqxmd.com/read/28900784/liver-involvement-in-urea-cycle-disorders-a-review-of-the-literature
#7
REVIEW
Adrien Bigot, Michel C Tchan, Benjamin Thoreau, Hélène Blasco, François Maillot
Urea cycle disorders (UCDs) are inborn errors of metabolism of the nitrogen detoxification pathway and encompass six principal enzymatic deficiencies. The aging of UCD patients leads to a better knowledge of the long-term natural history of the condition and to the reporting of previously unnoticed manifestations. Despite historical evidence of liver involvement in UCDs, little attention has been paid to this organ until recently. Hence, we reviewed the available scientific evidence on acute and chronic liver dysfunction and liver carcinogenesis in UCDs and discuss their pathophysiology...
September 12, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28895849/opening-marrow-niches-in-patients-undergoing-autologous-hematopoietic-stem-cell-gene-therapy
#8
REVIEW
Morton J Cowan, Christopher C Dvorak, Janel Long-Boyle
Successful gene therapy for genetic disorders requires marrow niches to be opened to varying degrees to engraft gene-corrected hematopoietic stem cells (HSC). For example, in severe combined immunodeficiency, relatively limited chimerism is necessary for both T- and B-cell immune reconstitution, whereas for inborn errors of metabolism maximal donor chimerism is the goal. Currently, alkylating chemotherapy is used for this purpose. Significant pharmacokinetic variability exists in drug clearance in children less than 12 years old...
October 2017: Hematology/oncology Clinics of North America
https://www.readbyqxmd.com/read/28894950/autism-spectrum-disorder-an-early-and-frequent-feature-in-cerebrotendinous-xanthomatosis
#9
Bianca M L Stelten, Olivier Bonnot, Hidde H Huidekoper, Francjan J van Spronsen, Peter M van Hasselt, Leo A J Kluijtmans, Ron A Wevers, Aad Verrips
BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is an autosomal recessively inherited inborn error of metabolism (IEM) due to mutations in the CYP27A1 gene. The clinical picture ranges from being nearly asymptomatic in early childhood, up to severe disability at adult age. Infantile-onset diarrhea and juvenile-onset cataract are the earliest symptoms in childhood. In the current study, we evaluated the presence of autism spectrum disorder (ASD) in a large cohort of CTX patients. METHODS: We performed a retrospective patient file study in 77 genetically confirmed Dutch CTX patients to determine the frequency of ASD...
September 11, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28891481/cardiac-manifestations-in-children-with-inborn-errors-of-metabolism
#10
Kyriaki Papadopoulou-Legbelou, Maria Gogou, Athanasios Evangeliou
NEED AND PURPOSE: Cardiac involvement is a part of many inborn errors of metabolism, but has not been systematically studied. This review focuses on studies describing cardiac manifestations of inborn errors of metabolism in childhood. METHODS: Two independent reviewers searched the topic using PubMed database. Studies published within 20 years were considered, without applying any restrictions related to study design. Despite the small number of existing systematic studies on the topic, several case series/reports were identified...
August 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28877755/uric-acid-an-important-screening-tool-to-detect-inborn-errors-of-metabolism-a-case-series
#11
Eresha Jasinge, Grace Angeline Malarnangai Kularatnam, Hewa Warawitage Dilanthi, Dinesha Maduri Vidanapathirana, Kandana Liyanage Subhashinie Priyadarshika Kapilani Menike Jayasena, Nambage Dona Priyani Dhammika Chandrasiri, Neluwa Liyanage Ruwan Indika, Pyara Dilani Ratnayake, Vindya Nandani Gunasekara, Lynette Dianne Fairbanks, Blanka Stiburkova
BACKGROUND: Uric acid is the metabolic end product of purine metabolism in humans. Altered serum and urine uric acid level (both above and below the reference ranges) is an indispensable marker in detecting rare inborn errors of metabolism. We describe different case scenarios of 4 Sri Lankan patients related to abnormal uric acid levels in blood and urine. CASE 1: A one-and-half-year-old boy was investigated for haematuria and a calculus in the bladder. Xanthine crystals were seen in microscopic examination of urine sediment...
September 6, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28869836/toward-a-generalized-computational-workflow-for-exploiting-transient-pockets-as-new-targets-for-small-molecule-stabilizers-application-to-the-homogentisate-1-2-dioxygenase-mutants-at-the-base-of-rare-disease-alkaptonuria
#12
Andrea Bernini, Silvia Galderisi, Ottavia Spiga, Giulia Bernardini, Neri Niccolai, Fabrizio Manetti, Annalisa Santucci
Alkaptonuria (AKU) is an inborn error of metabolism where mutation of homogentisate 1,2-dioxygenase (HGD) gene leads to a deleterious or misfolded product with subsequent loss of enzymatic degradation of homogentisic acid (HGA) whose accumulation in tissues causes ochronosis and degeneration. There is no licensed therapy for AKU. Many missense mutations have been individuated as responsible for quaternary structure disruption of the native hexameric HGD. A new approach to the treatment of AKU is here proposed aiming to totally or partially rescue enzyme activity by targeting of HGD with pharmacological chaperones, i...
August 25, 2017: Computational Biology and Chemistry
https://www.readbyqxmd.com/read/28868294/integration-of-proteomics-and-metabolomics-in-exploring-genetic-and-rare-metabolic-diseases
#13
REVIEW
Michele Costanzo, Miriam Zacchia, Giuliana Bruno, Daniela Crisci, Marianna Caterino, Margherita Ruoppolo
BACKGROUND: Inherited metabolic disorders or inborn errors of metabolism are caused by deficiency of enzymatic activities in the catabolism of amino acids, carbohydrates, or lipids. These disorders include aminoacidopathies, urea cycle defects, organic acidemias, defects of oxidation of fatty acids, and lysosomal storage diseases. Inborn errors of metabolism constitute a significant proportion of genetic diseases, particularly in children; however, they are individually rare. Clinical phenotypes are very variable, some of them remain asymptomatic, others manifest metabolic decompensation in neonatal age, and others encompass mental retardation at later age...
July 2017: Kidney Diseases
https://www.readbyqxmd.com/read/28862145/expanded-newborn-metabolic-screening-programme-in-hong-kong-a-three-year-journey
#14
S C Chong, L K Law, J Hui, C Y Lai, T Y Leung, Y P Yuen
INTRODUCTION: No universal expanded newborn screening service for inborn errors of metabolism is available in Hong Kong despite its long history in developed western countries and rapid development in neighbouring Asian countries. To increase the local awareness and preparedness, the Centre of Inborn Errors of Metabolism of the Chinese University of Hong Kong started a private inborn errors of metabolism screening programme in July 2013. This study aimed to describe the results and implementation of this screening programme...
September 1, 2017: Hong Kong Medical Journal, Xianggang Yi Xue za Zhi
https://www.readbyqxmd.com/read/28861858/k-sarafoglou-g-f-hoffmann-k-s-roth-eds-pediatric-endocrinology-and-inborn-errors-of-metabolism-second-edition-mcgraw-hill-education-2017-isbn-978-0-07-177-314-0
#15
Manuel Schiff
No abstract text is available yet for this article.
August 31, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28850618/early-onset-behavioral-and-neurochemical-deficits-in-the-genetic-mouse-model-of-phenylketonuria
#16
Elena Fiori, Diego Oddi, Rossella Ventura, Marco Colamartino, Alessandro Valzania, Francesca Romana D'Amato, Vibeke Bruinenberg, Eddy van der Zee, Stefano Puglisi-Allegra, Tiziana Pascucci
Phenylketonuria (PKU) is one of the most common human inborn errors of metabolism, caused by phenylalanine hydroxylase deficiency, leading to high phenylalanine and low tyrosine levels in blood and brain causing profound cognitive disability, if untreated. Since 1960, population is screened for hyperphenylalaninemia shortly after birth and submitted to early treatment in order to prevent the major manifestations of the disease. However, the dietetic regimen (phenylalanine free diet) is difficult to maintain, and despite the recommendation to a strict and lifelong compliance, up to 60% of adolescents partially or totally abandons the treatment...
2017: PloS One
https://www.readbyqxmd.com/read/28843300/dietary-guidelines-for-inborn-errors-of-metabolism
#17
Hans C Andersson
No abstract text is available yet for this article.
September 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28840535/chronic-exposure-to-%C3%AE-alanine-generates-oxidative-stress-and-alters-energy-metabolism-in-cerebral-cortex-and-cerebellum-of-wistar-rats
#18
Tanise Gemelli, Rodrigo Binkowski de Andrade, Denise Bertin Rojas, Ângela Zanatta, Gabriel Henrique Schirmbeck, Cláudia Funchal, Moacir Wajner, Carlos Severo Dutra-Filho, Clovis Milton Duval Wannmacher
β-Alanine occurs naturally in the human central nervous system and performs different functions. It can act as either a neurotransmitter or a neuromodulator, depletion of taurine levels and competitive antagonist of γ-aminobutyric acid (GABA). The β-amino acid accumulation exerts an important biological function as delay in brain development, oxidative stress and disturbances in energy metabolism, characterized as an inborn error of metabolism classified as β-alaninemia. We evaluated the effects of the chronic administration of β-alanine on some parameters of oxidative stress and enzymes of energy metabolism in cerebral cortex and cerebellum of 21-day-old Wistar rats...
August 24, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28834604/deficiency-of-aminopeptidase-p1-causes-behavioral-hyperactivity-cognitive-deficits-and-hippocampal-neurodegeneration
#19
Y-S Bae, S H Yoon, J Y Han, J Woo, Y S Cho, S-K Kwon, Y C Bae, D Kim, E Kim, M-H Kim
Metabolic diseases affect various organs including the brain. Accumulation or depletion of substrates frequently leads to brain injury and dysfunction. Deficiency of aminopeptidase P1, a cytosolic proline-specific peptidase encoded by the Xpnpep1 gene, causes an inborn error of metabolism (IEM) characterized by peptiduria in humans. We previously reported that knockout of aminopeptidase P1 in mice causes neurodevelopmental disorders and peptiduria. However, little is known about the pathophysiological role of aminopeptidase P1 in the brain...
August 23, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/28827091/critical-roles-for-%C3%AE-%C3%AE-hydrolase-domain-5-abhd5-comparative-gene-identification-58-cgi-58-at-the-lipid-droplet-interface-and-beyond
#20
REVIEW
Amanda L Brown, J Mark Brown
Mutations in the gene encoding comparative gene identification 58 (CGI-58), also known as α β hydrolase domain-containing 5 (ABHD5), cause neutral lipid storage disorder with ichthyosis (NLSDI). This inborn error in metabolism is characterized by ectopic accumulation of triacylglycerols (TAG) within cytoplasmic lipid droplets in multiple cell types. Studies over the past decade have clearly demonstrated that CGI-58 is a potent regulator of TAG hydrolysis in the disease-relevant cell types. However, despite the reproducible genetic link between CGI-58 mutations and TAG storage, the molecular mechanisms by which CGI-58 regulates TAG hydrolysis are still incompletely understood...
August 4, 2017: Biochimica et Biophysica Acta
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