| 의료진 | |
| 관련 질환명 | ASPA 결핍증 (ASPA deficiency ), aspartoacylase 결핍증( aspartoacylase deficiency ), ACY2 결핍증 ( ACY2 deficiency ), aminoacylase-2 결핍증 ( aminoacylase-2 deficiency ),ASP 결핍증 ( ASP deficiency ), 카나반 백색질장애( Canavans leukodystrophy ), Canavan-Van Bogaert-Bertrand병 ( Canavan-Van Bogaert-Bertrand disease ),Van Bogaert-Bertrand증후군 ( Van Bogaert-Bertrand syndrome ), 중추신경계통 해면변성증( CD ),spongy degeneration of central nervous system spongy degeneration of neuroaxis |
| 증상 | 강직, 근육긴장저하, 발달지연(목을 가누지 못함), 발작, 시각신경유두위축(이상), 정신지연, 큰머리증 |
| 관련 클리닉 |
