N-acetylaspartate deficiency (NACED) is a very rare disorder characterized by the absence of brain N-acetylaspartate (NAA) with truncal ataxia, marked developmental delay, seizures, and secondary microcephaly. NAA is a brain-specific molecule, that is essentially present in neurons. The mutation in NAT8L has been reported in the patient with NACED. It has been suggested that NAT8L, a neuron-specific protein, is responsible for NAA synthesis.
Wiame E, Tyteca D, Pierrot N, Collard F, Amyere M, Noel G, Desmedt J, Nassogne MC, Vikkula M, Octave JN, Vincent MF, Courtoy PJ, Boltshauser E, van Schaftingen E
タイトル
Molecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartia.
