Diagnosis of glutaric aciduria type I based on neuroradiological findings: when neonatal screening f...
Diagnosis of glutaric aciduria type I based on neuroradiological findings: when neonatal screening fails
About this item
Full title
Author / Creator
Publisher
England: BioMed Central
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central
Subjects
More information
Scope and Contents
Contents
Glutaric aciduria type I (GA-I) is an autosomal recessive disorder affecting the metabolism of lysine, hydroxylysine, and tryptophan. Patients present in the first age of life with an irreversible motor disorder, and neuroradiological imaging can suggest the presence of the condition. Biochemically, the disorder is characterized by elevated levels...
Alternative Titles
Full title
Diagnosis of glutaric aciduria type I based on neuroradiological findings: when neonatal screening fails
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_12076892
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_12076892
Other Identifiers
ISSN
1824-7288
E-ISSN
1824-7288
DOI
10.1186/s13052-025-01975-z
