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Article

A new patient with alpha-ketoglutaric aciduria and progressive extrapyramidal tract disease.

Brain & development - 1 Nov 1994

al Aqeel A, Rashed M, Ozand P T, Gascon G G, Rahbeeni Z, al Garawi S, al Odaib A, Brismar J

Abstract excerpt

A 4.5-year-old boy with chronic progressive encephalopathy is described. The clinical presentation initially included seizures and hypotonia which later evolved into severe extrapyramidal disease and dementia. The gas chromatography/mass spectrometry (GC/MS) analysis of urine indicated that alpha...

Topics

Basal Ganglia Diseases
Child, Preschool
Electroencephalography
Fibroblasts
Gas Chromatography-Mass Spectrometry
Glutamate Dehydrogenase
Humans
Ketoglutaric Acids
Magnetic Resonance Imaging
Male
Metabolism, Inborn Errors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 7726379
DOI: 10.1016/0387-7604(94)90094-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7726379-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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