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.

• Keywords
• HNF1A, HNF4A, MODY, congenital hyperinsulinism, hyperinsulinemic hypoglycemia,
• MeSH
• Diabetes Mellitus, Type 2 * genetics   complications   MeSH
• Hepatocyte Nuclear Factor 1-alpha genetics   MeSH
• Hepatocyte Nuclear Factor 4 * genetics   MeSH
• Hypoglycemia * genetics   etiology   pathology   MeSH
• Humans MeSH
• Mutation * MeSH
• Infant, Newborn, Diseases * genetics   MeSH
• Infant, Newborn MeSH
• Parents MeSH
• Check Tag
• Humans MeSH
• Infant, Newborn MeSH
• Publication type
• Journal Article MeSH
• Review MeSH
• Names of Substances
• Hepatocyte Nuclear Factor 1-alpha MeSH
• Hepatocyte Nuclear Factor 4 * MeSH
• HNF1A protein, human MeSH Browser
• HNF4A protein, human MeSH Browser

Maturity onset diabetes of the young (MODY) represents a diabetes type which has an enormous clinical impact. It significantly alters treatment, refines a patient's prognosis and enables early detection of diabetes in relatives. Nevertheless, when diabetes is manifested the vast majority of MODY patients are not correctly diagnosed, but mostly falsely included among patients with type 1 or type 2 diabetes, in many cases permanently. The aim of this article is to offer a simple and comprehensible guide for recognizing individuals with MODY hidden among adult patients with another type of long-term diabetes and in women with gestational diabetes.

• Keywords
• Differential diagnosis, Gestational diabetes, MODY, Type 1 diabetes mellitus, Type 2 diabetes mellitus,
• MeSH
• Diabetes Mellitus, Type 2 * classification   diagnosis   MeSH
• Child MeSH
• Humans MeSH
• Adolescent MeSH
• Child, Preschool MeSH
• Check Tag
• Child MeSH
• Humans MeSH
• Adolescent MeSH
• Male MeSH
• Child, Preschool MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Review MeSH

• Keywords
• GCK-MODY, HNF1A-MODY, HNF4A-MODY, MODY, diagnostics, differential diagnosis,
• Publication type
• Journal Article MeSH