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alpha-methylacetoaceticaciduria; 3-ketoacyl CoA thiolase deficiency
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
Specific
3-ketoacyl CoA thiolase (beta-ketothiolase, ACAA)
General
amino acid inborn error of metabolism
Database Correlations
OMIM 203750
References
- OMIM :accession 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