Familial Hyperlysinemia

《英文msh詞典》Familial Hyperlysinemia
[入口詞] Familial Hyperlysinemia
[主題詞] Hyperlysinemias
[英文釋義] A group of inherited metabolic disorders which have in common elevations of serum LYSINE levels. Enzyme deficiencies of alpha-aminoadipic semialdehyde dehydrogenase and the SACCHAROPINE DEHYDROGENASES have been associated with hyperlysinemia. Clinical manifestations include mental retardation,recurrent emesis,hypotonia,lethargy,diarrhea,and developmental delay. (From Menkes,Textbook of Child Neurology,5th ed,p56)

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