| A case of maternally inherited diabetes and deafness with rhabdomyolysis |
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Kwang Hee Lee, Sang Eok Kim, Ki Yong Kim, Jin Woo Youn, Sung Sup Park, Sang Hyun Yoo, M.T., Sung Chang Chung |
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| 모계유전 당뇨병과 난청환자에서 병발한 횡문근 융해증 1예 |
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이광희, 김상억, 김기용, 윤진우, 박성섭, 유상현, 정성창, Sung Chang Chung |
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| Abstract |
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A 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. (Korean J Med
76:S112-S116, 2009) |
| Key Words:
Diabetes; Deafness; Rhabdomyolysis |
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