alpha-methylacetoaceticaciduria; 3-ketoacyl CoA thiolase deficiency
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Epidemiology
rare
Pathology
- inborn error of isoleucine catabolism
Genetics
- associated with defects in ACAT1 gene
Clinical manifestations
- intermittent ketoacidosis attacks associated with unconsciousness
- some patients die during an attack or are mentally retarded
- severity correlates better with the environmental or acquired factors than with ACAT1 genotype
Laboratory
- increased urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, triglylglycine, butanone
Notes
- ACAT1 maps to neither of the beta-ketothiolases
More general terms
More specific terms
References
- ↑ OMIM https://mirror.omim.org/entry/203750
- ↑ Wikipedia: Beta-ketothiolase deficiency http://en.wikipedia.org/wiki/Beta-ketothiolase_deficiency
- ↑ Fukao T Beta-ketothiolase deficiency orphanet http://www.orpha.net/data/patho/GB/uk-T2.pdf