3-Hydroxy-3-methylglutaric aciduria, combined with 3-methylglutaconic aciduria

3-Hydroxy-3-methylglutaric aciduria, combined with 3-methylglutaconic aciduria

1. 1. A baby with severe metabolic acidosis was found to excrete abnormal amounts of 3-methylcrotonic acid, 3-methylglutaconic acid and 3-hydroxy-3-methylglutaric acid in urine. 2. 2. Several other abnormal constituents appear to be products of side-reactions and include 3-hydroxy-3-methylbutyric ac...

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Veröffentlicht in:Clinica chimica acta 1976-08, Vol.70 (3), p.399-406
Hauptverfasser: Wysocki, S.J., Wilkinson, S.P., Hähnel, R., Wong, C.Y.B., Panegyres, P.K.
Format: Artikel
Sprache:eng
Schlagworte:
Acidosis - urine
Amino Acid Metabolism, Inborn Errors - urine
Chromatography, Gas
Glutarates - urine
Humans
Hydroxybutyrates - urine
Infant
Leucine - metabolism
Mass Spectrometry
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Zusammenfassung:1. 1. A baby with severe metabolic acidosis was found to excrete abnormal amounts of 3-methylcrotonic acid, 3-methylglutaconic acid and 3-hydroxy-3-methylglutaric acid in urine. 2. 2. Several other abnormal constituents appear to be products of side-reactions and include 3-hydroxy-3-methylbutyric acid and 3-methylglutaric acid. 3. 3. The profile of acids in urine indicates a blockage in the sixth step of leucine catabolism, the cleavage of 3-hydroxy-3-methylglutaryl-CoA to acetoacetic acid and acetyl-CoA.
ISSN:0009-8981
1873-3492
DOI:10.1016/0009-8981(76)90353-3