Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mechanism of age-dependent susceptibility and novel treatment strategy in glutaric acidemia type I.

The Journal of clinical investigation - 1 Nov 2007

Zinnanti William J, Lazovic Jelena, Housman Cathy, LaNoue Kathryn, O'Callaghan James P, Simpson Ian, Woontner Michael, Goodman Stephen I, Connor James R, Jacobs Russell E, Cheng Keith C

Abstract excerpt

Glutaric acidemia type I (GA-I) is an inherited disorder of lysine and tryptophan metabolism presenting with striatal lesions anatomically and symptomatically similar to Huntington disease. Affected children commonly suffer acute brain injury in the context of a catabolic state associated with nonspecific illness. The mechanisms underlying injury and age-dependent susceptibility have been unknown, and lack of a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Metabolism, Inborn Errors
Share to Brain Diseases, Metabolic, Inborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to gamma-Aminobutyric Acid

Share to Glutamic Acid

Share to Glutarates

Share to Glutaryl-CoA Dehydrogenase

Share to Nuclear Magnetic Resonance, Biomolecular

Share to Tryptophan

Source

Open in PubMed Open full text

Identifiers

PMID: 17932566
DOI: 10.1172/JCI31617
PMCID: PMC2000809

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mechanism of age-dependent susceptibility and novel treatment strategy in glutaric acidemia type I.PMID 17932566Read ↗

Multifactorial modulation of susceptibility to l-lysine in an animal model of glutaric aciduria type I.Semantic proximity Read ↗

Glutaric aciduria type I and kynurenine pathway metabolites: a modified hypothesis.Semantic proximity Read ↗

Biochemical, pathologic and behavioral analysis of a mouse model of glutaric acidemia type I.Semantic proximity Read ↗

Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency.Semantic proximity Read ↗

Type I glutaric aciduria, part 1: natural history of 77 patients.Semantic proximity Read ↗

Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort.Semantic proximity Read ↗

Therapeutic AASS inhibition by AAV-miRNA rescues glutaric aciduria type I severe phenotype in mice.Semantic proximity Read ↗

Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency.Semantic proximity Read ↗

Variants in glycine decarboxylase activate mechanisms of mitochondrial energy metabolism in the brainSemantic proximity Read ↗

Adult-onset glutaric aciduria type I: rare presentation of a treatable disorder.Semantic proximity Read ↗

Variants in glycine decarboxylase activate catabolic mechanisms of mitochondrial energy metabolism in the brain.Semantic proximity Read ↗

(1)H-MRS in glutaric aciduria type 1: impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.