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Mitochondrial Diabetes: More Than Just Hyperglycemia

  1. Manjunath P. Ramakrishna,
  2. Praveen V. Pavithran,
  3. Nisha Bhavani,
  4. Harish Kumar,
  5. Vasantha Nair,
  6. Arun S. Menon,
  7. Usha V. Menon and
  8. Nithya Abraham
  1. Department of Endocrinology, Amrita Institute of Medical Sciences and Research Centre, Kochi, Kerala, India
  1. Corresponding author: Manjunath P. Ramakrishna, manjunathpr{at}aims.amrita.edu
Clinical Diabetes 2019 Jul; 37(3): 298-301. https://doi.org/10.2337/cd18-0090
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    FIGURE 1.

    Chronology of symptoms in the patient.

  • FIGURE 2.
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    FIGURE 2.

    Detection of mitochondrial A3243G mutation by PCR-RFLP (polymerase chain reaction–restriction fragment length polymorphism). A restriction digest analysis for the A3243G mtDNA mutation was performed. PCR product encompassing the tRNALeu gene was digested with ApaI before running analysis on 3% agarose gel. The figure shows 1) lanes, 2) wild-type, 3) positive control (a known patient with the A3243G mutation as detected by PCR-RFLP), and 4) the patient in this case study.

  • FIGURE 3.
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    FIGURE 3.

    Electrocardiogram showing Wolff-Parkinson-White pattern.

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  • TABLE 1.

    Patient’s Laboratory Investigations

    ParametersPatient’s ValuesReference Range
    Thyroid-stimulating hormone, µIU/mL1.420.7–5.97
    Free thyroxine, ng/dL1.130.7–1.48
    IGF-1, ng/mL18174–388
    GAD65, IU/mL2.27Cutoff: 5.0
    IA2, IU/mL6.18Cutoff: 8.0
    Lactate, mmol/L4.50.5–2.2
    Cortisol (8:00 a.m.), µg/dL14.53.7–19.4
    Luteinizing hormone, µIU/mL2.921.14–8.75
    Follicle-stimulating hormone, µIU/mL0.810.95–11.95
    Testosterone, ng/mL4.911.56–8.77
    Adrenocortotropic hormone, pg/mL987.2–63.3
    Creatine phosphokinase, U/L1530–171
    A1C, %8.4Normal <6.5%
    Stool fatNegative
    Computed tomography scan of brainNormal
    Multidetector computed tomography of the abdomenNo abnormality detected
    Two-dimensional echocardiogramMyxomatous mitral valve, prolapsed anterior mitral leaflet with trivial mitrial regurgitation
    Endoscopy with duodenum biopsyNormal
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Clinical Diabetes: 37 (3)

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July 2019, 37(3)
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Mitochondrial Diabetes: More Than Just Hyperglycemia
Manjunath P. Ramakrishna, Praveen V. Pavithran, Nisha Bhavani, Harish Kumar, Vasantha Nair, Arun S. Menon, Usha V. Menon, Nithya Abraham
Clinical Diabetes Jul 2019, 37 (3) 298-301; DOI: 10.2337/cd18-0090

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Mitochondrial Diabetes: More Than Just Hyperglycemia
Manjunath P. Ramakrishna, Praveen V. Pavithran, Nisha Bhavani, Harish Kumar, Vasantha Nair, Arun S. Menon, Usha V. Menon, Nithya Abraham
Clinical Diabetes Jul 2019, 37 (3) 298-301; DOI: 10.2337/cd18-0090
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