HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Rett syndrome revisited: a patient with biotin dependency.

Abstract
A patient with Rett syndrome (cerebral atrophy associated with hyperammonemia) was studied. Primary defects of urea cycle enzymes were excluded as causes of the disorder. The analysis of urinary organic acids showed a moderate increase of lactate, methylcitrate, tiglyglycine and 3-hydroxisovalerate, indicating an abnormality of multiple carboxylases. Biotin supplementation reversed the urinary abnormalities. In fibroblasts grown with a low biotin medium propionylCoA and 3-methylcrotonylCoA carboxylase activities were reduced. Holocarboxylase synthetase activity was normal (Vmax and Km). Surprisingly the biotinidase in fibroblasts was not decreased. The data indicate that some patients with Rett syndrome might suffer from a biotin-dependent defect of unknown nature.
AuthorsC Bachmann, J Schaub, J P Colombo, B J Burri, L Sweetman, B Wolf
JournalEuropean journal of pediatrics (Eur J Pediatr) Vol. 144 Issue 6 Pg. 563-6 (Apr 1986) ISSN: 0340-6199 [Print] Germany
PMID3709567 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Amino Acids
  • Biotin
  • Ammonia
Topics
  • Amino Acids (metabolism)
  • Ammonia (blood, physiology)
  • Atrophy
  • Biotin (therapeutic use)
  • Brain (pathology)
  • Child
  • Female
  • Humans
  • Syndrome

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: