fructose-1,6-diphosphatase deficiency : 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

Fructose-1,6-Diphosphatase Deficiency - 새창 An autosomal recessive fructose metabolism disorder due to absent or deficient fructose-1,6-diphosphatase activity. Gluconeogenesis is impaired, resulting in accumulation of gluconeogenic precursors (e.g., amino acids, lactate, ketones) and manifested as hypoglycemia, ketosis, and lactic acidosis. Episodes in the newborn infant are often lethal. Later episodes are often brought on by fasting and febrile infections. As patients age through early childhood, tolerance to fasting improves and development becomes normal.
Synonyms : Deficiency, Hexosediphosphatase, Fructose 1, 6 Diphosphatase Deficiency, Fructosediphosphatase Deficiency, Deficiencies, Fructose-1, 6-Bisphosphatase, Deficiencies, Fructose-1, 6-Diphosphatase, Deficiencies, Fructose-Biphosphatase