Literature DB >> 29502912

Inborn Errors of Metabolism with Hypoglycemia: Glycogen Storage Diseases and Inherited Disorders of Gluconeogenesis.

David A Weinstein1, Ulrike Steuerwald2, Carolina F M De Souza3, Terry G J Derks4.   

Abstract

Although hyperinsulinism is the predominant inherited cause of hypoglycemia in the newborn period, inborn errors of metabolism are the primary etiologies after 1 month of age. Disorders of carbohydrate metabolism often present with hypoglycemia when fasting occurs. The presentation, diagnosis, and management of the hepatic glycogen storage diseases and disorders of gluconeogenesis are reviewed.
Copyright © 2017 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Disorders of gluconeogenesis; Glycogen storage disease; Hypoglycemia; Ketosis; Ketotic hypoglycemia; Lactate

Mesh：

Substances：

Year:  2018        PMID： 29502912     DOI： 10.1016/j.pcl.2017.11.005

Source DB:  PubMed          Journal:  Pediatr Clin North Am        ISSN： 0031-3955            Impact factor:   3.278


  18 in total

1.  The potential of dietary treatment in patients with glycogen storage disease type IV.

Authors:  Terry G J Derks; Fabian Peeks; Foekje de Boer; Marieke Fokkert-Wilts; Hubert P J van der Doef; Marius C van den Heuvel; Edyta Szymańska; Dariusz Rokicki; Patrick T Ryan; David A Weinstein
Journal:  J Inherit Metab Dis       Date:  2020-12-21       Impact factor: 4.982

2.  A Single Episode of Hypoglycemia as a Possible Early Warning Sign of Adrenal Insufficiency.

Authors:  Sho Tanaka; Masanori Abe; Genta Kohno; Masaru Kushimoto; Jin Ikeda; Katsuhiko Ogawa; Yutaka Suzuki; Hisamitsu Ishihara; Midori Fujishiro
Journal:  Ther Clin Risk Manag       Date:  2020-02-27       Impact factor: 2.423

Review 3.  Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics.

Authors:  Israa T Ismail; Megan R Showalter; Oliver Fiehn
Journal:  Metabolites       Date:  2019-10-21

4.  Diabetes management in Wolcott-Rallison syndrome: analysis from the German/Austrian DPV database.

Authors:  Alena Welters; Thomas Meissner; Katja Konrad; Clemens Freiberg; Katharina Warncke; Sylvia Judmaier; Olga Kordonouri; Michael Wurm; Matthias Papsch; Gisela Fitzke; Silke Christina Schmidt; Sascha R Tittel; Reinhard W Holl
Journal:  Orphanet J Rare Dis       Date:  2020-04-22       Impact factor: 4.123

5.  Exome sequencing revealed DNA variants in NCOR1, IGF2BP1, SGLT2 and NEK11 as potential novel causes of ketotic hypoglycemia in children.

Authors:  Yazeid Alhaidan; Martin J Larsen; Anders Jørgen Schou; Maria H Stenlid; Mohammed A Al Balwi; Henrik Thybo Christesen; Klaus Brusgaard
Journal:  Sci Rep       Date:  2020-02-07       Impact factor: 4.379

Review 6.  Towards enhanced understanding of idiopathic ketotic hypoglycemia: a literature review and introduction of the patient organization, Ketotic Hypoglycemia International.

Authors:  Danielle Drachmann; Erica Hoffmann; Austin Carrigg; Beccie Davis-Yates; Valerie Weaver; Paul Thornton; David A Weinstein; Jacob S Petersen; Pratik Shah; Henrik Thybo Christesen
Journal:  Orphanet J Rare Dis       Date:  2021-04-13       Impact factor: 4.123

7.  Cystic fibrosis in disguise - the wolf in sheep's clothing, a case report.

Authors:  Friederike Wilbert; Sarah C Grünert; Andrea Heinzmann; Sebastian F N Bode
Journal:  BMC Pediatr       Date:  2021-04-14       Impact factor: 2.125

8.  Profound neonatal lactic acidosis and renal tubulopathy in a patient with glycogen storage disease type IXɑ2 secondary to a de novo pathogenic variant in PHKA2.

Authors:  J Andres Morales; Christina G Tise; Amrita Narang; Paul C Grimm; Gregory M Enns; Chung U Lee
Journal:  Mol Genet Metab Rep       Date:  2021-05-01

9.  Research priorities for liver glycogen storage disease: An international priority setting partnership with the James Lind Alliance.

Authors:  Fabian Peeks; Willemijn F Boonstra; Lut de Baere; Camilla Carøe; Thomas Casswall; Damián Cohen; Katherine Cowan; Iris Ferrecchia; Alberto Ferriani; Caroline Gimbert; Marcus Landgren; Nerea L Maldonado; Jason McMillan; Antal Nemeth; Niccolò Seidita; Ute Stachelhaus-Theimer; David A Weinstein; Terry G J Derks
Journal:  J Inherit Metab Dis       Date:  2019-11-13       Impact factor: 4.982

10.  A case of secondary acute myeloid leukemia on a background of glycogen storage disease with chronic neutropenia treated with granulocyte colony stimulating factor.

Authors:  Dina Khalaf; Heather Bell; David Dale; Vikas Gupta; Hanna Faghfoury; Chantal F Morel; Anne Tierens; David A Weinstein; Jiong Yan; Santhosh Thyagu; Dawn Maze
Journal:  JIMD Rep       Date:  2019-07-23
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