单词 | Brancher Deficiencies |
释义 | Brancher Deficiencies《英文msh词典》Brancher Deficiencies [入口词] Brancher Deficiencies [主题词] Glycogen Storage Disease Type IV [英文释义] An autosomal recessive metabolic disorder due to a deficiency in expression of branching enzyme (alpha-1,4-glucan-6-alpha-glucosyltransferase),resulting in an accumulation of abnormal glycogen with long outer branches. Clinical features are muscle hypotonia and cirrhosis. Death from liver disease usually occurs before age 2. |
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