A Scoping Review of Inborn Errors of Metabolism Causing Progressive Intellectual and Neurologic Deterioration (PIND)

Frontiers in Neurology
Hilde A G WarmerdamClara D M van Karnebeek

Abstract

Background: Progressive intellectual and neurological deterioration (PIND) is a rare but severe childhood disorder characterized by loss of intellectual or developmental abilities, and requires quick diagnosis to ensure timely treatment to prevent possible irreversible neurological damage. Inborn errors of metabolism (IEMs) constitute a group of more than 1,000 monogenic conditions in which the impairment of a biochemical pathway is intrinsic to the pathophysiology of the disease, resulting in either accumulation of toxic metabolites and/or shortage of energy and building blocks for the cells. Many IEMs are amenable to treatment with the potential to improve outcomes. With this literature review we aim to create an overview of IEMs presenting with PIND in children, to aid clinicians in accelerating the diagnostic process. Methods: We performed a PubMed search on IEMs presenting with PIND in individuals aged 0-18 years. We applied stringent selection criteria and subsequently derived information on encoding genes, pathways, clinical and biochemical signs and diagnostic tests from IEMbase (www.iembase.org) and other sources. Results: The PubMed search resulted in a total of 2,152 articles and a review of references added another ...Continue Reading

References

May 30, 2002·European Child & Adolescent Psychiatry·K NunnR Ouvrier
Jun 17, 2004·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·Daniel L KeeneUNKNOWN Canadian Paediatric Surveillance Program
Dec 2, 2009·Archives of Disease in Childhood·Christopher VerityAngus Nicoll
Jan 4, 2012·Molecular Genetics and Metabolism·Clara D M van Karnebeek, Sylvia Stockler
Dec 19, 2012·Seminars in Pediatric Neurology·Leigh Anne Flore, Jeff M Milunsky
Dec 21, 2012·Science Translational Medicine·Paola LeoneChristopher G Janson
Jan 16, 2014·Molecular Genetics and Metabolism·S M SirrsC D M van Karnebeek
Oct 1, 2015·Journal of Inherited Metabolic Disease·Eva MoravaJohannes Zschocke
Apr 17, 2016·Orphanet Journal of Rare Diseases·Ryan D GeraetsJill M Weimer
Jul 9, 2016·Orphanet Journal of Rare Diseases·Aisha Al-ShamsiFatma A Al-Jasmi
Sep 18, 2016·Journal of Neuroscience Research·Maria L EscolarKathleen LaPoint
Jun 8, 2017·Drugs·Anthony Markham
Oct 5, 2017·The New England Journal of Medicine·Florian EichlerDavid A Williams
Jan 6, 2018·International Journal of Molecular Sciences·Armond DaciShaip Krasniqi
Apr 25, 2018·The New England Journal of Medicine·Angela SchulzUNKNOWN CLN2 Study Group
Jun 10, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Carlos R FerreiraNenad Blau
Jun 26, 2018·Expert Opinion on Biological Therapy·Anthony Donsante, Nicholas M Boulis
Oct 20, 2018·Archives of Disease in Childhood·Christopher VeritySameer Zuberi
Nov 18, 2018·Italian Journal of Pediatrics·Alessandro FraldiMaria Ester Bernardo

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Citations

Dec 19, 2020·Developmental Medicine and Child Neurology·Clara Dm van Karnebeek
Apr 14, 2021·Orphanet Journal of Rare Diseases·Eva M M Hoytema van KonijnenburgClara D M van Karnebeek
May 18, 2021·Molecular Genetics and Metabolism Reports·Bhavi P ModiFazli Rabbi Awan

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Methods Mentioned

BETA
glycosylation

Software Mentioned

PIND
GeneReviews

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