Persistent Hyperinsulinemia Hypoglycemia of Infancy : 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

Persistent Hyperinsulinemia Hypoglycemia of Infancy - 새창 A form of nontransient HYPOGLYCEMIA, unique to infancy, due to autosomal recessive mutations of the sulfonylurea receptor gene on CHROMOSOME 11. Defects in the sulfonylurea receptors (ATP-BINDING CASSETTE TRANSPORTERS) on the PANCREATIC BETA CELLS prevent negative feedback of GLUCOSE-regulated INSULIN release thus resulting in HYPERINSULINEMIA. Clinical phenotype includes SEIZURES; COMA; and often large BIRTH WEIGHT for GESTATIONAL AGE.
Synonyms : Congenital Hyperinsulinism, Hyperinsulinemia Hypoglycemia of Infancy, PHHI Hypoglycemia, Hyperinsulinism, Congenital, Hypoglycemia, PHHI, Infancy Hyperinsulinemia Hypoglycemia