title: Maturity onset diabetes of the young: identification and diagnosis.
abstract: Maturity-onset diabetes of the young (MODY) is a monogenic disorder that results in a familial, young-onset non-insulin dependent form of diabetes, typically presenting in lean young adults before 25 years. Approximately 1% of diabetes has a monogenic cause but this is frequently misdiagnosed as Type 1 or Type 2 diabetes. A correct genetic diagnosis is important as it often leads to improved treatment for those affected with diabetes and enables predictive genetic testing for their asymptomatic relatives. An early diagnosis together with appropriate treatment is essential for reducing the risk of diabetic complications in later life. Mutations in the GCK and HNF1A/4 A genes account for up to 80% of all MODY cases. Mutations in the GCK gene cause a mild, asymptomatic and non-progressive fasting hyperglycaemia from birth usually requiring no treatment. In contrast, mutations in the genes encoding the transcription factors HNF1A and HNF4A cause a progressive insulin secretory defect and hyperglycaemia that can lead to vascular complications. The diabetes in these patients is usually well controlled with sulphonylurea tablets although insulin treatment may be required in later life. In this review, we outline the key clinical and laboratory characteristics of the common and rarer causes of MODY with the aim of raising awareness of this condition amongst health-care scientists.
authors.affiliation: Department of Clinical Biochemistry, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
authors.forename: Tim J
authors.initials: TJ
authors.lastname: McDonald
authors.forename: Sian
authors.initials: S
authors.lastname: Ellard
mesh_terms: D000293:Adolescent; D002648:Child; D003924:Diabetes Mellitus, Type 2 / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D000081410:Germinal Center Kinases; D051538:Hepatocyte Nuclear Factor 1-alpha / Q000235:genetics*; D051557:Hepatocyte Nuclear Factor 4 / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D006943:Hyperglycemia / Q000188:drug therapy; D007004:Hypoglycemic Agents / Q000627:therapeutic use; D007328:Insulin / Q000627:therapeutic use; D008297:Male; D009154:Mutation; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D013453:Sulfonylurea Compounds / Q000627:therapeutic use; D055815:Young Adult
chemical_list: D000081410:Germinal Center Kinases; C496487:HNF1A protein, human; C496592:HNF4A protein, human; D051538:Hepatocyte Nuclear Factor 1-alpha; D051557:Hepatocyte Nuclear Factor 4; D007004:Hypoglycemic Agents; D007328:Insulin; D013453:Sulfonylurea Compounds; D017346:Protein Serine-Threonine Kinases
keywords: MODY; diabetes; monogenic