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Studies on the urinary acidic metabolites from three patients with methylmalonic aciduria
Author(s) -
Kuhara Tomiko,
Matsumoto Isamu
Publication year - 1980
Publication title -
biomedical mass spectrometry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.475
H-Index - 121
eISSN - 1096-9888
pISSN - 0306-042X
DOI - 10.1002/bms.1200071004
Subject(s) - methylmalonic aciduria , methylmalonic acid , methylmalonic acidemia , chemistry , urine , ketone , urinary system , biochemistry , medicine , organic chemistry , vitamin b12
By gas chromatographic mass spectrometric analysis, 2‐methyl‐3‐oxovaleric acid, 3‐oxovaleric acid, 3‐hydroxyvaleric acid and 2‐methyl‐3‐hydroxybutyric acid were identified in the urine from three patients with methylmalonic aciduria. The level of 2‐methyl‐3‐oxovaleric acid increased with the increase of methylmalonic acid concentration and the level of 3‐oxovaleric acid increased with the increase of ketone bodies. It was demonstrated that these metabolites are detectable from patients with propionic acidemia and methylmalonic aciduria when propionyl CoA accumulates in the cells of the patients either primarily or secondarily.