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Hypoacetylaspartia
Hypoacetylaspartia is due to a deficiency of the enzyme N-acetyltransferase (NAT). NAT catalyses the formation of N-acetylaspartate (NAA) from aspartate and acetyl-CoA. NAA is a brain-specific molecule found abundance in neurones. Hypoacetylaspartia is an extremely rare condition and has only been described in one patient.
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- Part of Speech: noun
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