TY - JOUR
T1 - A Case of Mitochondrial Diabetes Mellitus with Various Autonomic Symptoms and Subclinical Cardiac Dysfunction
AU - Suzuki, Yoshihiko
AU - Momiyama, Yukihiko
AU - Atsumi, Yoshihito
AU - Hosokawa, Kazuhiro
AU - Kimura, Mitsuru
AU - Katagiri, Hideki
AU - Kadowaki, Takashi
AU - Oka, Yoshitomo
AU - Matsuoka, Kempei
PY - 1995/1/1
Y1 - 1995/1/1
N2 - We report the case of a 48 year-old woman. At the age of 38 years, she was diagnosed as having diabetes mellitus. Three years later, she became aware of orthostatic hypotension, residual urine and palpitations, but there were no abnormal findings on routine tests. Subsequently, a 3243 mitochondrial tRNA (leu) mutation was documented in her leukocytes, and myocardial imaging using 123I-labeled beta-methyl-iodophenyl pentadecansic acid (123I-BMIPP) revealed abnormal uptake in the lateral, inferior, and apical myocardium. These abnormalities resolved after coenzyme Q10 therapy. This suggested that the 123I-BMIPP test might be useful in detecting subclinical cardiac abnormalities associated with this mitochondrial mutation, and might be capable of being used to confirm the effects of Coenzyme Q10 therapy. Furthermore, it can be inferred that vasomotor dysfunction may have induced her various autonomic symptoms. We conclude that in view of the circulatory dysfunction due to the mitochondrial abnormality caution is warranted when diagnosing mitochondrial diabetes mellitus patients with various autonomic symptoms.
AB - We report the case of a 48 year-old woman. At the age of 38 years, she was diagnosed as having diabetes mellitus. Three years later, she became aware of orthostatic hypotension, residual urine and palpitations, but there were no abnormal findings on routine tests. Subsequently, a 3243 mitochondrial tRNA (leu) mutation was documented in her leukocytes, and myocardial imaging using 123I-labeled beta-methyl-iodophenyl pentadecansic acid (123I-BMIPP) revealed abnormal uptake in the lateral, inferior, and apical myocardium. These abnormalities resolved after coenzyme Q10 therapy. This suggested that the 123I-BMIPP test might be useful in detecting subclinical cardiac abnormalities associated with this mitochondrial mutation, and might be capable of being used to confirm the effects of Coenzyme Q10 therapy. Furthermore, it can be inferred that vasomotor dysfunction may have induced her various autonomic symptoms. We conclude that in view of the circulatory dysfunction due to the mitochondrial abnormality caution is warranted when diagnosing mitochondrial diabetes mellitus patients with various autonomic symptoms.
KW - BMIPP
KW - I
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U2 - 10.11213/tonyobyo1958.38.39
DO - 10.11213/tonyobyo1958.38.39
M3 - Article
AN - SCOPUS:8544260408
VL - 38
SP - 39
EP - 44
JO - Journal of the Japan Diabetes Society
JF - Journal of the Japan Diabetes Society
SN - 0021-437X
IS - 1
ER -