INTRODUCTION: Neonatal hypoglycaemia is the most common metabolic disorder of various causes, relatively rare being MODY (Maturity Onset Diabetes of the Young). CONTENT: Data search of relevant articles focused on hypoglycaemia in carriers of selected MODY gene mutations published from 2007 to 2022 was performed in databases Medline, PubMed, Cochrane and UptoDate based on key words: 'hyperinsulinemic hypoglycaemia', 'congenital hyperinsulinism', 'MODY', 'HNF4A mutation', 'HNF1A mutation'. SUMMARY: Loss of function of HNF4A and HNF1A genes comprises approximately to 5.9 % of diazoxide responsive hyperinsulinemic hypoglycaemia, which may appear in 15 % HNF4A mutation carriers. A typical finding of HNF4A mutation carriers with neonatal hypoglycaemia was a birth weight above 4000 g or above 97th percentile. OUTLOOK: Although mutations in MODY genes represent a rare cause of neonatal hypoglycaemia, they should be considered in the differential diagnosis, particularly in cases of persistent hypoglycaemia requiring intensive care.

• Klíčová slova
• HNF1A, HNF4A, MODY, congenital hyperinsulinism, hyperinsulinemic hypoglycemia,
• MeSH
• diabetes mellitus 2. typu * genetika   komplikace   MeSH
• hepatocytární jaderný faktor 1-alfa genetika   MeSH
• hepatocytární jaderný faktor 4 * genetika   MeSH
• hypoglykemie * genetika   etiologie   patologie   MeSH
• lidé MeSH
• mutace * MeSH
• nemoci novorozenců * genetika   MeSH
• novorozenec MeSH
• rodiče MeSH
• Check Tag
• lidé MeSH
• novorozenec MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH
• Názvy látek
• hepatocytární jaderný faktor 1-alfa MeSH
• hepatocytární jaderný faktor 4 * MeSH
• HNF1A protein, human MeSH Prohlížeč
• HNF4A protein, human MeSH Prohlížeč