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Author Subbarayan, Anbezhil ♦ Hussain, Khalid
Source World Health Organization (WHO)-Global Index Medicus
Content type Text
Publisher Wiley-Blackwell
File Format HTM / HTML
Language English
Difficulty Level Medium
Subject Domain (in DDC) Natural sciences & mathematics ♦ Chemistry & allied sciences ♦ Life sciences; biology ♦ Biochemistry ♦ Natural history of organisms ♦ Technology ♦ Medicine & health ♦ Human anatomy, cytology, histology ♦ Pharmacology and therapeutics ♦ Diseases ♦ Manufacture for specific uses ♦ Precision instruments & other devices
Subject Domain (in MeSH) Body Regions ♦ Anatomy ♦ Eukaryota ♦ Organisms ♦ Otorhinolaryngologic Diseases ♦ Hemic and Lymphatic Diseases ♦ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ♦ Nutritional and Metabolic Diseases ♦ Diseases ♦ Amino Acids, Peptides, and Proteins ♦ Chemicals and Drugs ♦ Investigative Techniques ♦ Analytical, Diagnostic and Therapeutic Techniques and Equipment ♦ Persons ♦ Persons
Subject Keyword Discipline Human ♦ Discipline Genetics ♦ Abnormalities, Multiple ♦ Diagnosis ♦ Face ♦ Abnormalities ♦ Hematologic Diseases ♦ Complications ♦ Hypoglycemia ♦ Etiology ♦ Vestibular Diseases ♦ Drug Therapy ♦ Genetics ♦ Child ♦ Child, Preschool ♦ Dna Mutational Analysis ♦ Dna-binding Proteins ♦ Female ♦ Humans ♦ Infant ♦ Male ♦ Neoplasm Proteins ♦ Case Reports ♦ Journal Article
Abstract Kabuki syndrome (KS) is a congenital malformation disorder with a spectrum of clinical manifestations involving different organs. Until the identification of MLL2 gene mutation in 2010, the diagnosis was made only clinically by the characteristic facial features with other common and uncommon features. Hypoglycemia, although an uncommon feature in KS, is very important to be recognized, as early diagnosis and appropriate management will reduce further long-term neurologic morbidity in these patients. We report on four patients with KS presenting with persistent hypoglycemia. Hyperinsulinemic hypoglycemia was the cause of hypoglycemia in two out of four patients and one patient had growth hormone deficiency. The mechanism of the hypoglycemia in one patient is still unclear. Three out of these four patients were found to have mutation in the MLL2 gene. Our observations suggest that patients with KS may have hypoglycemia due to different mechanisms and that MLL2 gene may have a role in glucose physiology.
Description Country affiliation: United kingdom
Author Affiliation: Subbarayan A ( Department of Pediatric Endocrinology, Great Ormond Street Hospital, London, UK.)
ISSN 15524825
Educational Role Student ♦ Teacher
Age Range above 22 year
Educational Use Reading ♦ Research ♦ Self Learning
Interactivity Type Expositive
Education Level UG and PG
Learning Resource Type Article ♦ Case study
Publisher Date 2014-02-01
Publisher Place United States
e-ISSN 15524833
Journal American Journal of Medical Genetics Part A
Volume Number 164A
Issue Number 2


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Source: WHO-Global Index Medicus