hyper-β-alaninemia

hyper-β-alaninemia
hy·per-β-al·a·nin·emia (hi″pər-ba″tə-al″ə-nĭ-neґme-ə) a rare disorder of β-alanine metabolism, possibly an autosomal recessive trait, due to deficiency of β-alanine–α-ketoglutarate transaminase activity; β-alanine, β-aminoisobutyric acid, taurine, and γ-aminobutyric acid are accumulated and excreted at elevated levels and the disorder is characterized by lethargy, somnolence, and grand mal seizures. Called also β-alaninemia.

Medical dictionary. 2011.

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