Neonatal Hereditary Fructose Intolerance: Diagnostic Misconceptions and the Role of Genomic Sequencing.
hereditary fructose intolerance
neonatal liver failure
whole exome sequencing
Journal
JPGN reports
ISSN: 2691-171X
Titre abrégé: JPGN Rep
Pays: United States
ID NLM: 101773885
Informations de publication
Date de publication:
May 2021
May 2021
Historique:
received:
20
11
2020
accepted:
24
02
2021
medline:
30
4
2021
pubmed:
30
4
2021
entrez:
19
5
2023
Statut:
epublish
Résumé
Hereditary fructose intolerance (HFI) is a rare inborn error of metabolism due to deficiency of the enzyme aldolase B, preventing metabolism of fructose. Patients remain asymptomatic until exposed to fructose, sucrose, or sorbitol. HFI presenting as acute liver failure in the neonatal period is rare due to lack of exposure as breast milk and infant formulas are considered to be fructose free. Diagnosis can be delayed due to vague symptoms and lack of specific biomarkers. Recent advances in genetic testing have led to rapid diagnosis and favorable outcomes. We present the case of a formula-fed neonate who presented with acute liver failure where definitive diagnosis of HFI was made using expedited whole exome sequencing. Through this communication, we aim to bring attention to neonatal presentations of HFI from exposure to fructose in infant formulas and also highlight advances in rapid turnaround genomic testing in diagnosis.
Identifiants
pubmed: 37207065
doi: 10.1097/PG9.0000000000000076
pmc: PMC10191584
doi:
Types de publication
Journal Article
Langues
eng
Pagination
e076Informations de copyright
Copyright © 2021 The Author(s). Published by Wolters Kluwer on behalf of European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition.
Déclaration de conflit d'intérêts
The authors report no conflicts of interest.
Références
J Genet Couns. 2019 Apr;28(2):283-291
pubmed: 30964580
JIMD Rep. 2012;6:31-7
pubmed: 23430936
J Inherit Metab Dis. 2010 Apr;33(2):105-12
pubmed: 20162364
Sci Transl Med. 2019 Apr 24;11(489):
pubmed: 31019026
Pediatr Crit Care Med. 2019 Nov;20(11):1007-1020
pubmed: 31246743
J Pediatr Gastroenterol Nutr. 2005 Nov;41(5):584-99
pubmed: 16254515
Pediatrics. 2020 Aug;146(2):
pubmed: 32709737
Nutrients. 2015 Jul 16;7(7):5850-67
pubmed: 26193309
JAMA Pediatr. 2017 Sep 1;171(9):855-862
pubmed: 28759686
J Inherit Metab Dis. 2007 Jun;30(3):407
pubmed: 17457694
Clin Chim Acta. 2009 Mar;401(1-2):81-3
pubmed: 19100247
Genet Med. 2018 Apr;20(4):435-443
pubmed: 28771251
Genet Med. 2017 Aug;19(8):867-874
pubmed: 28125081
Mol Genet Metab. 2018 Apr;123(4):428-432
pubmed: 29510902
Helv Paediatr Acta. 1978 Dec;33(6):465-87
pubmed: 738900
J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S273-8
pubmed: 19768653
NPJ Genom Med. 2018 Apr 4;3:10
pubmed: 29644095