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A Patient with Mitochondrial Myopathy who Experienced Diabetic Ketoacidosis with Auto-antibody  

Nam, Soon Young (Departments of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Huh, Rimm (Departments of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Kwun, Younghee (Departments of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Lee, Jieun (Departments of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Cho, Sung Yoon (Departments of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Jin, Dong-Kyu (Departments of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Publication Information
Journal of The Korean Society of Inherited Metabolic disease / v.14, no.2, 2014 , pp. 191-194 More about this Journal
Abstract
Mitochondrial myopathy results from a primary dysfunction of the respiratory chain and is frequently accompanied with endocrine manifestations. Among the endocrine manifestations of mitochondrial disease, diabetes mellitus is relatively common. Diabetes mellitus in the mitochondrial myopathy is usually insulin dependent due to the defect in insulin secretion resulted from mitochondrial dysfunction. But it is seldom manifested as diabetes ketoacidosis and doesn't usually have an auto-antibody. We report a patient with mitochondrial myopathy who was diagnosed as having diabetes mellitus by presenting as diabetes ketoacidosis and had both of the auto-glutamic acid decarboxylase (GAD) antibody and anti-insulin auto-antibody.
Keywords
Mitochondrial myopathies; Diabetic ketoacidosis; Diabetes mellitus; Autoimmune disease;
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Times Cited By KSCI : 1  (Citation Analysis)
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1 Kwon SU, Lee KH, Kim DE, Hwang YS, Chun YK, Chi JG, et al. Clinical Manifestations of Mitochondrial Diseases. J Korean Neurol Assoc 1995;13:941-53.
2 Haas RH, Parikh S, Falk MJ, Saneto RP, Wolf NI, Darin N, et al. Mitochondrial disease: a practical approach for primary care physicians. Pediatrics 2007;120:1326-33.   DOI   ScienceOn
3 Pfeffer G, Chinnery PF. Diagnosis and treatment of mitochondrial myopathies. Ann Med 2013;45:4-16.   DOI   ScienceOn
4 Schaefer AM, Walker M, Turnbull DM, Taylor RW. Endocrine disorders in mitochondrial disease. Mol Cell Endocrinol 2013;379:2-11.   DOI   ScienceOn
5 Whittaker RG, Schaefer AM, McFarland R, Taylor RW, Walker M, Turnbull DM. Prevalence and progression of diabetes in mitochondrial disease. Diabetologia 2007;50:2085-9.   DOI   ScienceOn
6 Johns DR. Seminars in medicine of the Beth Israel Hospital, Boston. Mitochondrial DNA and disease. N Engl J Med 1995;333:638-44.   DOI   ScienceOn
7 Gerbitz KD, van den Ouweland JM, Maassen JA, Jaksch M. Mitochondrial diabetes mellitus: a review. Biochim Biophys Acta 1995;1271:253-60.   DOI   ScienceOn
8 Muravchick S. Clinical implications of mitochondrial disease. Adv Drug Deliv Rev 2008;60:1553-60.   DOI   ScienceOn
9 Jung SH, Kim EJ, Im SH, Ju K, Choi Kh, Ko SH, et al. A Case of MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke-like Episodes) Syndrome Manifested by Diabetic Ketoacidosis. J Korean Diabetes Assoc 2004;28:231-7.
10 Park KR, Park HW, Ko TS, Cheong HI, Yang SW, Hwang YS, et al. A Pediatric Case of MELAS Syndrome Associated with Insulin-dependent Diabetes Mellitus. J Korean Pediatr Soc 1996;39:1461-5.
11 Jeong HS, Kang JY, Kim H, Lee KH, Lee DS, Choi GY, et al. A Case of MELAS Syndrome Manifested by Insulin-deficient Diabetes Mellitus. J Korean Endocr Soc 2008;23:444-9.   과학기술학회마을
12 Oka Y, Katagiri H, Yazaki Y, Murase T, Kobayashi T. Mitochondrial gene mutation in islet-cell-antibody-positive patients who were initially noninsulin-dependent diabetics. Lancet 1993;342:527-8.   DOI   ScienceOn
13 Huang CN, Jee SH, Hwang JJ, Kuo YF, Chuang LM. Autoimmune IDDM in a sporadic MELAS patient with mitochondrial tRNA (Leu(UUR)) mutation. Clin Endocrinol (Oxf) 1998;49:265-70.   DOI   ScienceOn
14 Suzuki Y, Kobayashi T, Taniyama M, Astumi Y, Oka Y, Kadowaki T, et al. Islet cell antibody in mitochondrial diabetes. Diabetes Res Clin Pract 1997;35:163-5.   DOI   ScienceOn
15 Kobayashi T, Oka Y, Katagiri H, Falorni A, Kasuga A, Takei I, et al. Association between HLA and islet cell antibodies in diabetic patients with a mitochondrial DNA mutation at base pair 3243. Diabetologia 1996;39:1196-200.   DOI
16 Rotig A, Bonnefont JP, Munnich A. Mitochondrial diabetes mellitus. Diabetes Metab 1996;22:291-8.