Novel Hexokinase 1 Genetic Mutation Presenting with Recurrent Fever and Developmental Delay: Possible Insight on the Role of Glucose Metabolism Dysregulation and Autoinflammation

被引:0
|
作者
Mirza, Aisha [1 ]
Khojah, Amer [2 ]
机构
[1] Makkah Matern & Children Hosp, Pediat Rheumatol, Mecca, Saudi Arabia
[2] Umm Al Qura Univ, Pediat Allergy Immunol & Pediat Rheumatology, Mecca, Saudi Arabia
关键词
Hexokinase; 1; Autoinflammation; Recurrent fever; Developmental delay; Glucose metabolism;
D O I
10.1016/j.clim.2024.110018
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
76
引用
收藏
页数:1
相关论文
共 4 条
  • [1] Case Report: A Novel de novo Mutation in DNM1L Presenting With Developmental Delay, Ataxia, and Peripheral Neuropathy
    Wei, Yanping
    Qian, Min
    FRONTIERS IN PEDIATRICS, 2021, 9
  • [2] Glucose Transporter Type 1 Deficiency Syndrome: Developmental Delay and Early-Onset Ataxia in a Novel Mutation of the SLC2A1 Gene
    Messana, Tullio
    Russo, Angelo
    Vergaro, Raffaella
    Boni, Antonella
    Santucci, Margherita
    Pini, Antonella
    JOURNAL OF PEDIATRIC NEUROSCIENCES, 2018, 13 (04) : 496 - 499
  • [3] Seizures, developmental delay, mild intellectual disability, muscular hypotonia, and optic atrophy: About the genetic diagnosis of patient with a novel ATP1A3 mutation
    Saygi, C.
    Sezerman, U.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1863 - 1863
  • [4] Microdeletion 11q13.1.q13.2 in a Patient Presenting with Developmental Delay, Facial Dysmorphism, and Esophageal Atresia: Possible Role of the GSTP1 Gene in Esophagus Malformation
    de Almeida, Tatiana Ferreira
    Bertola, Debora Romeo
    BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY, 2013, 97 (07) : 463 - 466