Neuroimaging findings of inborn errors of metabolism: urea cycle disorders, aminoacidopathies, and organic acidopathies.
Aminoacidopathy
Inborn errors of metabolism
Magnetic resonance spectroscopy
Organic acidopathy
Urea cycle disorders
Journal
Japanese journal of radiology
ISSN: 1867-108X
Titre abrégé: Jpn J Radiol
Pays: Japan
ID NLM: 101490689
Informations de publication
Date de publication:
Jul 2023
Jul 2023
Historique:
received:
02
11
2022
accepted:
23
01
2023
medline:
3
7
2023
pubmed:
3
2
2023
entrez:
2
2
2023
Statut:
ppublish
Résumé
Although there are many types of inborn errors of metabolism (IEMs) affecting the central nervous system, also referred to as neurometabolic disorders, individual cases are rare, and their diagnosis is often challenging. However, early diagnosis is mandatory to initiate therapy and prevent permanent long-term neurological impairment or death. The clinical course of IEMs is very diverse, with some diseases progressing to acute encephalopathy following infection or fasting while others lead to subacute or slowly progressive encephalopathy. The diagnosis of IEMs relies on biochemical and genetic tests, but neuroimaging studies also provide important clues to the correct diagnosis and enable the conditions to be distinguished from other, more common causes of encephalopathy, such as hypoxia-ischemia. Proton magnetic resonance spectroscopy (
Identifiants
pubmed: 36729192
doi: 10.1007/s11604-023-01396-0
pii: 10.1007/s11604-023-01396-0
pmc: PMC9893193
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
683-702Informations de copyright
© 2023. The Author(s).
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