hyperlysinemia : KMLE 의학 검색 엔진 - 의학사전, 의학용어, 의학약어, 의학논문, 약품/의약품 검색

MeSH(Medical Subject Headings) 맞춤 검색 (http://www.nlm.nih.gov) 결과 : 1 페이지: 1

Hyperlysinemias - 새창 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)
Synonyms : Deficiency Disease, Alpha-Aminoadipic Semialdehyde, Deficiency Disease, Lysine Alpha-Ketoglutarate Reductase, Deficiency Disease, Saccharopine Dehydrogenase, Hyperlysinemia, Familial, Hyperlysinemia, Periodic, Familial Hyperlysinemia, Hyperlysinemia