Neurology 2001-Sep
Intractable fever and cortical neuronal glycogen storage in glycogenosis type 2.
등록 된 사용자 만 기사를 번역 할 수 있습니다.
로그인 / 가입
링크가 클립 보드에 저장됩니다.
키워드
요약
Glycogenosis type 2 is an autosomal recessive glycogen storage disorder caused by deficiency of lysosomal acid alpha-glucosidase. Different phenotypes are recognized. The authors describe two children affected by the late infantile form; both presented terminal hyperthermia not caused by infections. Autopsy performed in one case showed diffuse glycogen storage in the CNS neurons. In light of current interest in enzyme replacement therapy, this finding casts some doubt on how effective enzyme replacement therapy will be unless it can be targeted directly into the CNS.