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Cutaneous manifestations of NAXD deficiency – A case report

Mohammad Umair Malik, Haleema Nadir, Zita Jessop Orcid Logo, Jonathan James Cubitt

Annals of Medicine and Surgery, Volume: 60, Pages: 352 - 355

Swansea University Author: Zita Jessop Orcid Logo

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DOI (Published version): 10.1016/j.amsu.2020.11.026

Abstract

Metabolism is a tightly regulated sequence of events, supported by key reactions between enzymes and enzyme-specific substrates. These reactions have the potential to produce metabolic side products that can have deleterious effects to further key metabolic reactions. The nicotinamide repair system...

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Published in: Annals of Medicine and Surgery
ISSN: 2049-0801
Published: Elsevier BV 2020
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URI: https://cronfa.swan.ac.uk/Record/cronfa57541
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first_indexed 2021-08-05T15:59:51Z
last_indexed 2021-09-09T03:20:58Z
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spelling 2021-09-08T13:57:56.0526419 v2 57541 2021-08-05 Cutaneous manifestations of NAXD deficiency – A case report 0184f610b62d649a59dad304e48ea03b 0000-0003-2886-9165 Zita Jessop Zita Jessop true false 2021-08-05 BMS Metabolism is a tightly regulated sequence of events, supported by key reactions between enzymes and enzyme-specific substrates. These reactions have the potential to produce metabolic side products that can have deleterious effects to further key metabolic reactions. The nicotinamide repair system consists of two partner enzymes, NAD(P)HX epimerase (NAXE) and NAD(P)HX dehydratase (NAXD). These enzymes regulate the levels of metabolic side products. Here we present a case of an 11-month old child who presented to our paediatric department with pyrexia, lethargy and multiple cutaneous lesions on the background of NAXD deficiency, a lethal neurometabolic disorder of early childhood. Despite early intervention with intravenous antibiotics, the patient failed to improve and subsequently passed away. The skin lesions were thought to be a consequence of systemic disease rather than a propagator of infection. Clinicians should be aware of this incredibly rare metabolic disease, its potential to cause widespread systemic dysfunction and the developing avenues for management. Journal Article Annals of Medicine and Surgery 60 352 355 Elsevier BV 2049-0801 NAXD deficiency; Neurodegenerative disease; Metabolic disorder; Paediatric disease; Novel; Case report 1 12 2020 2020-12-01 10.1016/j.amsu.2020.11.026 COLLEGE NANME Biomedical Sciences COLLEGE CODE BMS Swansea University External research funder(s) paid the OA fee (includes OA grants disbursed by the Library) UKRI, MRC MR/N002431/1 2021-09-08T13:57:56.0526419 2021-08-05T16:58:08.9222797 Faculty of Medicine, Health and Life Sciences Swansea University Medical School - Medicine Mohammad Umair Malik 1 Haleema Nadir 2 Zita Jessop 0000-0003-2886-9165 3 Jonathan James Cubitt 4 57541__20565__7feca638f18748f0a6469df075a5c887.pdf 57541.pdf 2021-08-05T17:00:35.8460302 Output 1291209 application/pdf Version of Record true © 2020 The Authors. This is an open access article under the CC BY license true eng http://creativecommons.org/licenses/by/4.0/
title Cutaneous manifestations of NAXD deficiency – A case report
spellingShingle Cutaneous manifestations of NAXD deficiency – A case report
Zita Jessop
title_short Cutaneous manifestations of NAXD deficiency – A case report
title_full Cutaneous manifestations of NAXD deficiency – A case report
title_fullStr Cutaneous manifestations of NAXD deficiency – A case report
title_full_unstemmed Cutaneous manifestations of NAXD deficiency – A case report
title_sort Cutaneous manifestations of NAXD deficiency – A case report
author_id_str_mv 0184f610b62d649a59dad304e48ea03b
author_id_fullname_str_mv 0184f610b62d649a59dad304e48ea03b_***_Zita Jessop
author Zita Jessop
author2 Mohammad Umair Malik
Haleema Nadir
Zita Jessop
Jonathan James Cubitt
format Journal article
container_title Annals of Medicine and Surgery
container_volume 60
container_start_page 352
publishDate 2020
institution Swansea University
issn 2049-0801
doi_str_mv 10.1016/j.amsu.2020.11.026
publisher Elsevier BV
college_str Faculty of Medicine, Health and Life Sciences
hierarchytype
hierarchy_top_id facultyofmedicinehealthandlifesciences
hierarchy_top_title Faculty of Medicine, Health and Life Sciences
hierarchy_parent_id facultyofmedicinehealthandlifesciences
hierarchy_parent_title Faculty of Medicine, Health and Life Sciences
department_str Swansea University Medical School - Medicine{{{_:::_}}}Faculty of Medicine, Health and Life Sciences{{{_:::_}}}Swansea University Medical School - Medicine
document_store_str 1
active_str 0
description Metabolism is a tightly regulated sequence of events, supported by key reactions between enzymes and enzyme-specific substrates. These reactions have the potential to produce metabolic side products that can have deleterious effects to further key metabolic reactions. The nicotinamide repair system consists of two partner enzymes, NAD(P)HX epimerase (NAXE) and NAD(P)HX dehydratase (NAXD). These enzymes regulate the levels of metabolic side products. Here we present a case of an 11-month old child who presented to our paediatric department with pyrexia, lethargy and multiple cutaneous lesions on the background of NAXD deficiency, a lethal neurometabolic disorder of early childhood. Despite early intervention with intravenous antibiotics, the patient failed to improve and subsequently passed away. The skin lesions were thought to be a consequence of systemic disease rather than a propagator of infection. Clinicians should be aware of this incredibly rare metabolic disease, its potential to cause widespread systemic dysfunction and the developing avenues for management.
published_date 2020-12-01T04:13:22Z
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score 11.012678

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