Long Term Follow-Up of Polish Patients with Isovaleric Aciduria. Clinical and Molecular Delineation of Isovaleric Aciduria.
IVD gene
dietary management
isovaleric acidemia
mild phenotype
newborn screening
organic acidurias
Journal
Diagnostics (Basel, Switzerland)
ISSN: 2075-4418
Titre abrégé: Diagnostics (Basel)
Pays: Switzerland
ID NLM: 101658402
Informations de publication
Date de publication:
23 Sep 2020
23 Sep 2020
Historique:
received:
26
08
2020
revised:
19
09
2020
accepted:
21
09
2020
entrez:
26
9
2020
pubmed:
27
9
2020
medline:
27
9
2020
Statut:
epublish
Résumé
Isovaleric acidemia (IVA) is an autosomal recessive leucine inborn error of metabolism caused by isovaleryl-CoA dehydrogenase deficiency. The disease has various courses, from severe ones manifesting in newborns to the intermittent form with first manifestation in children and adults. The aim of this study was to analyze clinical and neurological outcomes in Polish patients with IVA. Ten patients diagnosed and treated in The Children's Memorial Health Institute were included in the study. The diagnosis was based on tandem MS (increased level of C5 acylcarnitine) and urine GCMS (increased isovalerylglycine, and 3-hydroxyisovaleric acid). Molecular analysis was performed in seven patients (70%) leading to the detection of pathogenic variants in the
Identifiants
pubmed: 32977617
pii: diagnostics10100738
doi: 10.3390/diagnostics10100738
pmc: PMC7598207
pii:
doi:
Types de publication
Journal Article
Langues
eng
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