Literature DB >> 26042912

Inborn errors of metabolism.

Ayman W El-Hattab1.   

Abstract

Inborn errors of metabolism (IEM) are individually rare but collectively common. Approximately 25% of IEMs can have manifestations in the neonatal period. Neonates with IEM are usually healthy at birth; however, in hours to days after birth they can develop nonspecific signs that are common to several other neonatal conditions. Therefore, maintaining a high index of suspicion is extremely important for early diagnosis and the institution of appropriate therapy, which are mandatory to prevent death and ameliorate complications from many IEMs.
Copyright © 2015 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Acidosis; Fatty acid oxidation; Hyperammonemia; Hypoglycemia; Metabolic; Organic acidemia; Urea cycle

Mesh:

Year:  2015        PMID: 26042912     DOI: 10.1016/j.clp.2015.02.010

Source DB:  PubMed          Journal:  Clin Perinatol        ISSN: 0095-5108            Impact factor:   3.430


  16 in total

Review 1.  Common metabolic disorder (inborn errors of metabolism) concerns in primary care practice.

Authors:  Marisha Agana; Julia Frueh; Manmohan Kamboj; Dilip R Patel; Shibani Kanungo
Journal:  Ann Transl Med       Date:  2018-12

2.  A yeast-based complementation assay elucidates the functional impact of 200 missense variants in human PSAT1.

Authors:  Amy Sirr; Russell S Lo; Gareth A Cromie; Adrian C Scott; Julee Ashmead; Mirutse Heyesus; Aimée M Dudley
Journal:  J Inherit Metab Dis       Date:  2020-02-27       Impact factor: 4.982

3.  The use of 68Ga-EDTA PET allows detecting progressive decline of renal function in rats.

Authors:  Andrea O Fontana; Mary Gonzalez Melo; Gilles Allenbach; Costa Georgantas; Ruijia Wang; Olivier Braissant; Frederic Barbey; John O Prior; Diana Ballhausen; David Viertl
Journal:  Am J Nucl Med Mol Imaging       Date:  2021-12-15

4.  Breastfeeding practices for infants with inherited metabolic disorders: A survey of registered dietitians in the United States and Canada.

Authors:  Allison Buckingham; Aileen Kenneson; Rani H Singh
Journal:  Mol Genet Metab Rep       Date:  2022-04-04

Review 5.  Toxic Metabolites and Inborn Errors of Amino Acid Metabolism: What One Informs about the Other.

Authors:  Namgyu Lee; Dohoon Kim
Journal:  Metabolites       Date:  2022-06-08

6.  Expanding Role of Proton Magnetic Resonance Spectroscopy: Timely Diagnosis and Treatment Initiation in Partial Ornithine Transcarbamylase Deficiency.

Authors:  Kuntal Sen; Carlos Castillo Pinto; Andrea L Gropman
Journal:  J Pediatr Genet       Date:  2020-04-23

7.  100 years of inherited metabolic disorders in Austria-A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021.

Authors:  Gabriele Ramoser; Federica Caferri; Bernhard Radlinger; Michaela Brunner-Krainz; Sybille Herbst; Martina Huemer; Miriam Hufgard-Leitner; Susanne G Kircher; Vassiliki Konstantopoulou; Wolfgang Löscher; Dorothea Möslinger; Barbara Plecko; Johannes Spenger; Thomas Stulnig; Gere Sunder-Plassmann; Saskia Wortmann; Sabine Scholl-Bürgi; Daniela Karall
Journal:  J Inherit Metab Dis       Date:  2021-10-17       Impact factor: 4.750

8.  Natural Variation in SER1 and ENA6 Underlie Condition-Specific Growth Defects in Saccharomyces cerevisiae.

Authors:  Amy Sirr; Adrian C Scott; Gareth A Cromie; Catherine L Ludlow; Vida Ahyong; Trey S Morgan; Teresa Gilbert; Aimée M Dudley
Journal:  G3 (Bethesda)       Date:  2018-01-04       Impact factor: 3.154

9.  SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation.

Authors:  Javier Calvo-Garrido; Camilla Maffezzini; Florian A Schober; Paula Clemente; Elias Uhlin; Malin Kele; Henrik Stranneheim; Nicole Lesko; Helene Bruhn; Per Svenningsson; Anna Falk; Anna Wedell; Christoph Freyer; Anna Wredenberg
Journal:  Stem Cell Reports       Date:  2019-02-28       Impact factor: 7.765

10.  Liver transplantation in children with inborn errors of metabolism: 30 years experience in NSW, Australia.

Authors:  Noha Elserafy; Sue Thompson; Troy Dalkeith; Michael Stormon; Gordon Thomas; Albert Shun; Janine Sawyer; Shanti Balasubramanian; Kaustuv Bhattacharya; Nadia Badawi; Carolyn Ellaway
Journal:  JIMD Rep       Date:  2021-05-04
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