A case of maternally inherited diabetes and deafness with rhabdomyolysis.
- Author:
Kwang Hee LEE
1
;
Sang Eok KIM
;
Ki Yong KIM
;
Jin Woo YOUN
;
Sung Sup PARK
;
Sang Hyun YOO
;
Sung Chang CHUNG
Author Information
1. Department of Internal Medicine, Dongkang Hospital, Ulsan, Korea. jusi430@hanmail.net
- Publication Type:Case Report
- Keywords:
Diabetes;
Deafness;
Rhabdomyolysis
- MeSH:
Adult;
Body Mass Index;
Deafness;
Diabetes Mellitus;
Diabetes Mellitus, Type 2;
Female;
Hearing Loss, Sensorineural;
Humans;
Molecular Biology;
Mothers;
Point Mutation;
Rhabdomyolysis;
RNA, Transfer, Leu;
Siblings
- From:Korean Journal of Medicine
2009;76(Suppl 1):S112-S116
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
mutation at position 3,243 in the mtDNA-encoded tRNALeu (UUR) gene is associated with the syndrome of maternally inherited diabetes and deafness (MIDD). It is a rare form of diabetes first described in 1992 characterized by maternal relatives with an early middle-aged onset of diabetes, bilateral sensorineural hearing loss, and a normal or low body mass index. A 37-year-old woman was admitted because of general weakness. She had diabetes mellitus (DM) and deafness. Her mother had DM, her second sister had DM and deafness, and her little brother had DM. The molecular genetic analysis identified the A3243G point mutation. In addition, rhabdomyolysis was diagnosed based on the initial laboratory findings and a whole-body bone scan. We report a case of MIDD with rhabdomyolysis due to a low carbohydrate intake and present it with a literature review.
