Pyridoxine‐responsive hyper‐β‐alaninemia associated with Cohen's syndrome

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Abstract
We report intermittent seizures, lethargy, and Cohen's syndrome in a 4-year-old girl with hyper-β-alaninemia and a partial deficiency of β-alanyl-α-ketoglutarate transaminase (AKT). To examine the role of β-alanine (βALA) in cellular metabolism, we cultured her skin fibroblasts in medium containing increasing amounts of βALA. At concentrations of 10 to 25 mM, βALA 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.

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