Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, and often
fatal lysosomal storage disease caused by the deficiency of the enzyme
acid sphingomyelinase (ASM) resulting in accumulation of sphingomyelin in target tissues.
酸性鞘磷脂酶缺乏症(ASMD)是一種罕見的,進行性且通常是致命的溶酶體貯積病,
是由酸性鞘磷脂酶(ASM)缺乏導致的,導致鞘磷脂在靶組織中積聚。
Developmental delay, regression, and/or learning disabilities were reported
in 40% of patients with chronic neurovisceral ASMD and 21% of patients with
chronic visceral ASMD.
據報導,有40%的慢性神經內臟性ASMD患者和21%的慢性內臟性ASMD患者存在發展遲緩
,退步和/或學習障礙。
Yamaguchi and Suzuki (9) purified two acid sphingomyelinases
from extracts of human brain (en- zymes A and B) which were stimulated by Mg2+ at neutral pH.
Yamaguchi和Suzuki(9)從人腦提取物中(酶A和B)提取了兩種酸性鞘磷脂酶,
這些酶在Mg2+(鎂離子)的中性pH刺激下。
二、
Delayed myelination in children with developmental delay detected by volumetric MRI.
體積核磁共振檢查發現發展遲緩兒童的髓鞘化遲緩。
腦麻治療總整理Part-III(缺鎂銅硒鐵,建議可以喝草莓亞培安素、桂格特級完膳、豆漿)
http://www.eyny.com/blog-5788411-764117.html
髓鞘化(myelination)
超微結構發現:缺鎂的髓鞘軸突和髓鞘明顯少於對照組,甚至有更多的無髓鞘神經軸突。
硒是髓鞘基因正常上調所必需的。
與更大程度的功能惡化一致,AQP4( - / - )小鼠顯示出更大的神經元損失和脫髓鞘
,具有顯著的囊腫形成
錳(Mn)提升了水通道蛋白AQP-4(aquaporin-4)的膜表達
三、
Developmental delay can also be a symptom of other underlying medical conditions, including:
autism spectrum disorders (ASDs)
cerebral palsy
fetal alcohol spectrum disorders
Landau Kleffner syndrome
myopathies, including muscular dystrophies
genetic disorders, such as Down syndrome and fragile X syndrome
發展遲緩也可能是其他潛在醫學狀況的症狀,包括:
自閉症譜系障礙(ASD)
腦癱(腦麻)
胎兒酒精譜異常
Landau Kleffner綜合徵
肌病,包括肌營養不良
遺傳疾病,例如唐氏綜合徵和脆性X綜合徵
我過去的查證,自閉症譜系障礙(ASD)、腦癱(腦麻)、肌病,包括肌營養不良、唐氏綜合徵和脆性X綜合徵都缺鎂。
總結以上:
遲緩兒應該主要缺鎂,錳及硒可以輔助。