Korean J Med.  2009 Apr;76(Suppl 1):S112-S116.

A case of maternally inherited diabetes and deafness with rhabdomyolysis

Affiliations
  • 1Department of Internal Medicine, Dongkang Hospital, Ulsan, Korea. jusi430@hanmail.net
  • 2Department of Diagnostic Laboratory Medicine,Seoul National University College of Medicine, Seoul, Korea.

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.

Keyword

Diabetes; Deafness; Rhabdomyolysis

MeSH Terms

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
Deafness
Diabetes Mellitus, Type 2
RNA, Transfer, Leu
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