Salsabeel H Sabi, Roaa K Alzreqat, Ammar M Almaaytah, Majed M Masaadeh, Ahmad Khaled Abualhaijaa
{"title":"高胰岛素性低血糖的遗传变异：活性突变与非活性突变。","authors":"Salsabeel H Sabi, Roaa K Alzreqat, Ammar M Almaaytah, Majed M Masaadeh, Ahmad Khaled Abualhaijaa","doi":"10.2147/DMSO.S482056","DOIUrl":null,"url":null,"abstract":"<p><p>Hyperinsulinemic Hypoglycemia (HH) is a rare condition that affects newborn children in the postnatal period, represented by dangerously low levels of blood glucose in a persistent manner, which puts the baby at high risk of multiple issues, especially regarding the brain cells if the baby does not take the appropriate medication or have the correct diagnosis. Hyperinsulinemic Hypoglycemia can happen due to an active or inactive mutation in 16 genes responsible for glucose metabolism and insulin secretion (<i>GLUD1</i>, <i>GCK</i>, <i>SLC16A1</i>, <i>HK1</i>, <i>CACNA1D</i>, <i>KCNJ11</i>, <i>ABCC8</i>, <i>FOXA2</i>, <i>HNF1A</i>, <i>HNF4A</i>, <i>HADH</i>, <i>PGM1</i>, <i>UCP2</i>, <i>KCNQ1</i>, <i>PMM2</i>, <i>EIF2S3</i>). These mutations can take place in many forms, either defused or local, affecting several or all pancreatic beta cells respectively. This review summarizes genetic variations diagnosis and treatment of Hyperinsulinemic Hypoglycemia.</p>","PeriodicalId":11116,"journal":{"name":"Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy","volume":"17 ","pages":"4439-4452"},"PeriodicalIF":2.8000,"publicationDate":"2024-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11607999/pdf/","citationCount":"0","resultStr":"{\"title\":\"Genetic Variations in Hyperinsulinemic Hypoglycemia: Active versus Inactive Mutations.\",\"authors\":\"Salsabeel H Sabi, Roaa K Alzreqat, Ammar M Almaaytah, Majed M Masaadeh, Ahmad Khaled Abualhaijaa\",\"doi\":\"10.2147/DMSO.S482056\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Hyperinsulinemic Hypoglycemia (HH) is a rare condition that affects newborn children in the postnatal period, represented by dangerously low levels of blood glucose in a persistent manner, which puts the baby at high risk of multiple issues, especially regarding the brain cells if the baby does not take the appropriate medication or have the correct diagnosis. Hyperinsulinemic Hypoglycemia can happen due to an active or inactive mutation in 16 genes responsible for glucose metabolism and insulin secretion (<i>GLUD1</i>, <i>GCK</i>, <i>SLC16A1</i>, <i>HK1</i>, <i>CACNA1D</i>, <i>KCNJ11</i>, <i>ABCC8</i>, <i>FOXA2</i>, <i>HNF1A</i>, <i>HNF4A</i>, <i>HADH</i>, <i>PGM1</i>, <i>UCP2</i>, <i>KCNQ1</i>, <i>PMM2</i>, <i>EIF2S3</i>). These mutations can take place in many forms, either defused or local, affecting several or all pancreatic beta cells respectively. This review summarizes genetic variations diagnosis and treatment of Hyperinsulinemic Hypoglycemia.</p>\",\"PeriodicalId\":11116,\"journal\":{\"name\":\"Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy\",\"volume\":\"17 \",\"pages\":\"4439-4452\"},\"PeriodicalIF\":2.8000,\"publicationDate\":\"2024-11-26\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11607999/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.2147/DMSO.S482056\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q3\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.2147/DMSO.S482056","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
Genetic Variations in Hyperinsulinemic Hypoglycemia: Active versus Inactive Mutations.
Hyperinsulinemic Hypoglycemia (HH) is a rare condition that affects newborn children in the postnatal period, represented by dangerously low levels of blood glucose in a persistent manner, which puts the baby at high risk of multiple issues, especially regarding the brain cells if the baby does not take the appropriate medication or have the correct diagnosis. Hyperinsulinemic Hypoglycemia can happen due to an active or inactive mutation in 16 genes responsible for glucose metabolism and insulin secretion (GLUD1, GCK, SLC16A1, HK1, CACNA1D, KCNJ11, ABCC8, FOXA2, HNF1A, HNF4A, HADH, PGM1, UCP2, KCNQ1, PMM2, EIF2S3). These mutations can take place in many forms, either defused or local, affecting several or all pancreatic beta cells respectively. This review summarizes genetic variations diagnosis and treatment of Hyperinsulinemic Hypoglycemia.
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An international, peer-reviewed, open access, online journal. The journal is committed to the rapid publication of the latest laboratory and clinical findings in the fields of diabetes, metabolic syndrome and obesity research. Original research, review, case reports, hypothesis formation, expert opinion and commentaries are all considered for publication.
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