Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

Ketoacidosis due to beta-ketothiolase deficiency

Orpha number ORPHA134
Synonym(s) Alpha-methyl-acetoacetyl-CoA thiolase deficiency
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
ICD-10
  • E71.1
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Beta-ketothiolase deficiency is a defect of mitochondrial acetoacetyl-CoA thiolase (T2) involving ketone body metabolism and isoleucine catabolism. This new rare disorder is characterized by normal early development followed by a progressive loss of mental and motor skills. It is clinically characterized by intermittent ketoacidotic episodes, with no clinical symptoms between episodes. Ketoacidotic episodes are usually severe and sometimes accompanied by lethargy/coma. Some patients may have neurologicalimpairments as a sequela of these episodes. The disorder is caused by a mutation in a gene localized to chromosome region 11q and is transmitted in an autosomal recessive manner. More than 20 mutations have been identified. T2 deficiency is characterized by urinary excretion of 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate, and tiglylglycine but its extent is variable. Acylcarnitine analysis is also useful for the diagnosis. However, the diagnosis should be confirmed by enzyme assay. Treatments of acute episodes include infusion of sufficient glucose and correction of acidosis. Fundamental management includes mild protein restriction and prophylactic glucose infusion during mild illness. This disorder has usually a favorable outcome. Clinical consequences can be avoided by early diagnosis, appropriate management of ketoacidosis, and modest protein restriction.

Expert reviewer(s)

  • Dr Toshiyuki FUKAO

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image

Detailed information

Emergency guidelines
  • EN (2012,pdf)
Article for general public
  • ES (2011,pdf)
  • FR (2011,pdf)
  • NL (2011,pdf)
  • EN (2011,pdf)
  • PT (2011,pdf)
  • IT (2011,pdf)
  • DE (2011,pdf)
Get Acrobat Reader
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.