3‐Hydroxy‐3‐methylglutaric aciduria combined with 3‐methylglutaconic aciduria: A new case

3‐Hydroxy‐3‐methylglutaric aciduria combined with 3‐methylglutaconic aciduria: A new case

The urinary organic acids of a new case of 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency have been analysed by gas chromatography‐mass spectrometry. This patient's fibroblasts showed a reduced ability to oxidize leucine.

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Veröffentlicht in:Journal of inherited metabolic disease 1981-12, Vol.4 (1), p.173-174
Hauptverfasser: Divry, P., Rolland, M. O., Teyssier, J., Cotte, J., Formosinho Fernandes, M. C., Tavares de Almeida, I., Silveira, C.
Format: Artikel
Sprache:eng
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Zusammenfassung:The urinary organic acids of a new case of 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency have been analysed by gas chromatography‐mass spectrometry. This patient's fibroblasts showed a reduced ability to oxidize leucine.
ISSN:0141-8955
1573-2665
DOI:10.1007/BF02263646