Follow-up of a child with hypoacetylaspartia.
We provide a 5-year follow-up of a patient previously reported to have no NAA signal on neurospectroscopy. At 8 years this boy was found to have profound neurological dysfunction: he had truncal ataxia, no expressive speech, behaviour abnormalities, secondary microcephaly and cognitive achievements corresponding to less than 12 months of age. He started to have generalized seizures at 5 years 9 months. Although not directly proven we assume an inborn error of NAA metabolism, possibly a defect of the anabolic enzyme L-aspartate N-acetyltransferase (EC 2.3.1.17).
Boltshauser
E
E
Department of Neurology, University Children's Hospital, Zurich, Switzerland. eugen.boltshauser@kispi.unizh.ch
Schmitt
B
B
Wevers
R A
RA
Engelke
U
U
Burlina
A B
AB
Burlina
A P
AP
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000503:physiopathology*; D001224:Aspartic Acid / Q000031:analogs & derivatives* / Q000378:metabolism*; D001921:Brain / Q000473:pathology; D002658:Developmental Disabilities / Q000209:etiology; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008297:Male; D013226:Status Epilepticus / Q000209:etiology
D001224:Aspartic Acid; C000179:N-acetylaspartate