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.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C50 Inborn errors of amino acid or other organic acid metabolism
H02800 N-acetylaspartate deficiency
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
Title
Molecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartia.
