Pyridoxine-responsive hyper-beta-alaninemia associated with Cohen's syndrome

Neurology. 1994 Sep;44(9):1728-32. doi: 10.1212/wnl.44.9.1728.


We report intermittent seizures, lethargy, and Cohen's syndrome in a 4-year-old girl with hyper-beta-alaninemia and a partial deficiency of beta-alanyl-alpha-ketoglutarate transaminase (AKT). To examine the role of beta-alanine (beta ALA) in cellular metabolism, we cultured her skin fibroblasts in medium containing increasing amounts of beta ALA. At concentrations of 10 to 25 mM, beta ALA caused more than a 50% reduction in the growth of her cells compared with normal control skin fibroblasts. The addition of 0.1 mM of pyridoxine to the culture medium abolished these toxic effects and increased her skin fibroblast AKT enzyme activity more than twofold. During a 2-year period of clinical observation, there were no further episodes of seizures or somnolence in our patient while she received oral pyridoxine therapy.

Publication types

  • Case Reports

MeSH terms

  • 4-Aminobutyrate Transaminase / metabolism
  • Abnormalities, Multiple / blood
  • Abnormalities, Multiple / drug therapy
  • Child
  • Female
  • Humans
  • Intellectual Disability / blood
  • Intellectual Disability / drug therapy
  • Metabolic Diseases / drug therapy*
  • Muscle Hypotonia / blood
  • Muscle Hypotonia / drug therapy
  • Obesity / blood
  • Obesity / drug therapy
  • Pyridoxine / therapeutic use*
  • Syndrome
  • beta-Alanine / blood*


  • beta-Alanine
  • 4-Aminobutyrate Transaminase
  • Pyridoxine