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-ketoglutarate was increased 210 times and aconitic acid 80 times. No disturbance of acid/base balance, lactic acid or...
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