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- Title
Maternally inherited diabetes and deafness (MIDD)—a series of case reports.
- Authors
Pichakacheri, Sureshkumar; Radha, Venkatesan; Mohan, Viswanathan; Kumar, Sidharth S; Babu, Aishwarya Suresh
- Abstract
Introduction: Maternally inherited diabetes and deafness (MIDD) is a rare form of diabetes, caused by a mutation in the mitochondrial DNA (mtDNA) which impairs mitochondrial function by decreasing the efficiency of the Leucine transfer ribonucleic acid (tRNA) in adding amino acids to developing proteins. MIDD has a prevalence of 0.5 to 3% among diabetic population but almost always misdiagnosed and managed as either type 1 or type 2 diabetes mellitus, which adversely impacts their long-term outcome. So, it is important to differentiate these cases early enough and to institute correct treatment. Case Reports: We report on 3 cases of MIDD which was confirmed by genetic testing and five of their first-degree relatives with similar clinical presentation. Diagnostic Intervention: Genetic Testing was done on all 3 cases and heteroplasmic missense mutation in the MT-TL1 gene (chrm: 3243A>G mitochondrial DNA) was detected in all three patients but genetic confirmation was not possible in their relatives for want of patient consent for genetic study. Conclusion: To our knowledge, this is the largest series of MIDD reported from India.
- Subjects
GENETICS of diabetes; DIAGNOSIS of diabetes; GENETICS of deafness; DNA; MITOCHONDRIAL pathology; GENETIC testing; GESTATIONAL diabetes; DIAGNOSTIC errors; RARE diseases
- Publication
International Journal of Diabetes in Developing Countries, 2023, Vol 43, Issue 4, p583
- ISSN
0973-3930
- Publication type
Article
- DOI
10.1007/s13410-022-01156-2