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

Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic stroke.

Journal of inherited metabolic disease - 1 Feb 2006

Pinto L, Zen P, Rosa R, Paskulin G, Perla A, Barea L, Baumgartner M R, Dantas M F, Fowler B, Giugliani R, Vargas C, Wajner M, Graziadio C

Abstract excerpt

We report a 3-year-old boy with isolated 3-methylcrotonyl-coenzyme A deficiency with unexpectedly severe presentation, seizures and history of cerebral ischae-mic episode.

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 Carbon-Carbon Ligases
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glycine

Share to Phenotype

Share to Stroke

Source

Identifiers

PMID: 16601894
DOI: 10.1007/s10545-006-0188-0

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 8 closest

Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic stroke.PMID 16601894Read ↗

Fatal metabolic stroke in a child with propionic acidemia 11 years post liver transplant.Semantic proximity Read ↗

3-HMG Coenzyme A Lyase Deficiency: Macrocephaly and Left Ventricular Noncompaction with a Novel Mutation.Semantic proximity Read ↗

[Late onset 3-HMG-CoA lyase deficiency: a rare but treatable disorder].Semantic proximity Read ↗

3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces.Semantic proximity Read ↗

3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: One disease- many facesSemantic proximity Read ↗

3-Methylglutaconic aciduria: ten new cases with a possible new phenotype.Semantic proximity Read ↗

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.Semantic proximity Read ↗

Profound neurological presentation resulting from homozygosity for a mild glutaryl-CoA dehydrogenase mutation with a minimal biochemical phenotype.Semantic proximity Read ↗

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