Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia - A novel fumarylacetoacetate hydrolase (
AFP, alpha-fetoprotein
ALP, alkaline phosphatase
ALT, alanine transaminase
AST, aspartate transaminase
DBS, dried blood spot
Dried blood spot
FAH, fumarylacetoacetate hydrolase
Fumarylacetoacetate hydrolase
GGT, gamma glutamyl transferase
HT1, tyrosinemia type 1
INR, international normalized ratio
Intronic variant
MS/MS, tandem mass spectrometry
NBS, newborn screening
NTBC, nitisinone
Nitisinone
PTT, partial thromboplastin time
RF, reference range
SA, succinylacetone
Succinylacetone
Tyrosinemia
Journal
Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422
Informations de publication
Date de publication:
Mar 2022
Mar 2022
Historique:
received:
02
11
2021
revised:
12
12
2021
accepted:
13
12
2021
entrez:
4
3
2022
pubmed:
5
3
2022
medline:
5
3
2022
Statut:
epublish
Résumé
Tyrosinemia type 1 (HT1) is an inborn error of tyrosine catabolism that leads to severe liver, kidney, and neurological dysfunction. Newborn screening (NBS) can enable a timely diagnosis and early initiation of treatment. We presented the follow up of the only two Slovenian patients diagnosed with HT1. Metabolic control was monitored by measuring tyrosine, phenylalanine and succinylacetone from dried blood spots (DBSs). Retrograde screening of HT1 was performed from DBSs taken at birth using tandem mass spectrometry. First patient was diagnosed at the age of 6 months in the asymptomatic phase due to an abnormal liver echogenicity, the other presented at 2.5 months with an acute liver failure and needed a liver transplantation. The first was a compound heterozygote for a novel
Identifiants
pubmed: 35242570
doi: 10.1016/j.ymgmr.2021.100836
pii: S2214-4269(21)00131-2
pmc: PMC8856938
doi:
Types de publication
Case Reports
Langues
eng
Pagination
100836Informations de copyright
© 2021 The Authors.
Déclaration de conflit d'intérêts
Authors declare no conflicts of interest.
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