Mitochondrial Diabetes: More Than Just Hyperglycemia
- Manjunath P. Ramakrishna,
- Praveen V. Pavithran,
- Nisha Bhavani,
- Harish Kumar,
- Vasantha Nair,
- Arun S. Menon,
- Usha V. Menon and
- Nithya Abraham
- Department of Endocrinology, Amrita Institute of Medical Sciences and Research Centre, Kochi, Kerala, India
- Corresponding author: Manjunath P. Ramakrishna, manjunathpr{at}aims.amrita.edu
Article Figures & Tables
Figures
- FIGURE 1.
Chronology of symptoms in the patient.
- 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.
Electrocardiogram showing Wolff-Parkinson-White pattern.
Tables
- TABLE 1.
Patient’s Laboratory Investigations
Parameters Patient’s Values Reference Range Thyroid-stimulating hormone, µIU/mL 1.42 0.7–5.97 Free thyroxine, ng/dL 1.13 0.7–1.48 IGF-1, ng/mL 181 74–388 GAD65, IU/mL 2.27 Cutoff: 5.0 IA2, IU/mL 6.18 Cutoff: 8.0 Lactate, mmol/L 4.5 0.5–2.2 Cortisol (8:00 a.m.), µg/dL 14.5 3.7–19.4 Luteinizing hormone, µIU/mL 2.92 1.14–8.75 Follicle-stimulating hormone, µIU/mL 0.81 0.95–11.95 Testosterone, ng/mL 4.91 1.56–8.77 Adrenocortotropic hormone, pg/mL 98 7.2–63.3 Creatine phosphokinase, U/L 153 0–171 A1C, % 8.4 Normal <6.5% Stool fat Negative Computed tomography scan of brain Normal Multidetector computed tomography of the abdomen No abnormality detected Two-dimensional echocardiogram Myxomatous mitral valve, prolapsed anterior mitral leaflet with trivial mitrial regurgitation Endoscopy with duodenum biopsy Normal
In this Issue
July 2019, 37(3)
