hyper-β-alaninemia

hyper-β-alaninemia
Elevated levels of β-alanine in the serum; believed to be due to a deficiency of β-alanine:pyruvate aminotransferase; leads to impaired CNS function.

Medical dictionary. 2011.

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  • 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… …   Medical dictionary

  • β-alaninemia — β al·a·nin·emia (al″ə nēn eґme ə) hyper β alaninemia …   Medical dictionary

  • β-alanine-pyruvate aminotransferase — An enzyme that reversibly transfers the amino group of β alanine to pyruvate, thus producing l alanine and malonate semialdehyde. A deficiency of this enzyme is believed to be the cause of hyper β alaninemia …   Medical dictionary

  • malonate semialdehyde — The transaminated product of β alanine; elevated in hyper β alaninemia …   Medical dictionary

  • taurine — 1. An aminosulfonic acid, synthesized from l cysteine and used in a number of roles, including in the synthesis of certain bile salts. 2. Of or pertaining to a bull. [L. taurinus, of bulls, fr. taurus, bull, + suffix inus, pertaining to] * * *… …   Medical dictionary

  • β-alanine–α-ketoglutarate transaminase — β al·a·nine–α ke·to·glu·ta·rate trans·am·i·nase (alґə nēn ke″to glooґtə rāt trans amґĭ nās) an enzyme activity that transfers the amino group from β alanine to α ketoglutarate, forming… …   Medical dictionary

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