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

3-Methylglutaconic aciduria: ten new cases with a possible new phenotype.

Brain & development - 1 Nov 1994

al Aqeel A, Rashed M, Ozand P T, Brismar J, Gascon G G, al Odaib A, Dabbagh O

Abstract excerpt

3-Methylglutaconic aciduria is an organic aciduria with diverse phenotypic presentations. In more than half of the cases it is a 'neurologic or silent organic aciduria', and, except for one subtype, the biochemical defect is unknown. This report describes 10 new patients. Four of them presented with early global neurologic involvement and arrested development. They rapidly became demented, developed myoclonus or...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Infant
Share to Metabolism, Inborn Errors

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Nervous System Diseases

Share to Phenotype

Share to Ubiquinone

Source

Identifiers

PMID: 7726378
DOI: 10.1016/0387-7604(94)90093-0

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

3-Methylglutaconic aciduria: ten new cases with a possible new phenotype.PMID 7726378Read ↗

3-Methylglutaconic aciduria type VIII in an Indian neonate.Semantic proximity Read ↗

3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature.Semantic proximity Read ↗

3-methylglutaconic aciduria disorders: the clinical spectrum increases.Semantic proximity Read ↗

Mild and late onset forms of type I 3-methylglutaconic aciduria presenting as isolated cerebellar ataxia without leukodystrophy: case reports and phenotype expansion.Semantic proximity Read ↗

Clinical spectrum of acyl-CoA synthetase family member 3-related combined malonic and methylmalonic aciduria: insights from four cases.Semantic proximity Read ↗

Costeff optic atrophy syndrome: new clinical case and novel molecular findings.Semantic proximity Read ↗

[Analysis of six children with 3-methylglutaconic aciduria].Semantic proximity Read ↗

3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency.Semantic proximity Read ↗

3-Methylglutaconic aciduria type I causes leukoencephalopathy of adult onset.Semantic proximity Read ↗

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

Early infantile presentation of 3-methylglutaconic aciduria type 1 with a novel mutation in AUH gene: A case report and literature review.Semantic proximity Read ↗

Neurologic nonmetabolic presentation of propionic acidemia.Semantic proximity Read ↗

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