Primary carnitine deficiency
An autosomal recessive inherited disorder caused by mutations in the SLC22A5 gene. It is characterized by the presence of a defective protein called OCTN2 which is involved in the transportation of carnitine into the cells. This abnormality results in reduced energy production and accumulation of fatty acids in the tissues. Clinical manifestations of confusion, muscle weakness, hypoglycemia, encephalopathy and cardiomyopathy may be exacerbated during fasting.
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Dear doctor friends, Kindly suggest Rx. Female /55 years Diabetic Suffering from GANGRENE RIGHT FOOT *Chief Complaints* Swelling over right foot Bleeding from wound No pus Wound Not getting good *History* Diabetic type 2 *Vitals* PPS 180 BP 120/84 *Physical Examination* Deep bleeding wound but no pus *Investigations* The sonography report is attached *Diagnosis* Gangrene right feet, skin so thickened *Management* Regular dressing, controlled blood sugar, strictly following diet control
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