(1/7) Lipid Myopathy
1:Carnitine Palmitoyltransferase 2 deficiency
2:VLC acyl-CoA-Dehydrogenase deficiency
3:Trifunctional Deficiency
1:Carnitine Palmitoyltransferase 2 deficiency
2:VLC acyl-CoA-Dehydrogenase deficiency
3:Trifunctional Deficiency
(2/7) Metabolism of fats,Beta-Oxidation, Carnitine.
Excessive accumulation of fatty acids,fatty liver, cardiomyopathy.
Exercise induced weakness, static myopathy, Fasting non-ketotic hypoglycemia, Rhabdomyolysis.
Excessive accumulation of fatty acids,fatty liver, cardiomyopathy.
Exercise induced weakness, static myopathy, Fasting non-ketotic hypoglycemia, Rhabdomyolysis.
(3/7) Labs:
EMG-Myopathic patterns,
BLOOD: lncreased CK, low free carnitine, increased Acylcarnitine, lactate, urinary organic acids,
During Crises ⬆️ CK, Acylcarnitine, myoglobunuria, hypoglycemia, absent ketone formations.
EMG-Myopathic patterns,
BLOOD: lncreased CK, low free carnitine, increased Acylcarnitine, lactate, urinary organic acids,
During Crises ⬆️ CK, Acylcarnitine, myoglobunuria, hypoglycemia, absent ketone formations.
(4/7) Skin Biopsy : Fibroblasts & Enzymatic Testings
Large Panel Genetic Testing Diagnostic.
Large Panel Genetic Testing Diagnostic.
(5/7) Treatment :
1=Avoid Fasting, dehydration, fatty meals, stress
2=Frequent small carbohydrates rich meals
3=Fluids + Carbohydrates before and during physical
1=Avoid Fasting, dehydration, fatty meals, stress
2=Frequent small carbohydrates rich meals
3=Fluids + Carbohydrates before and during physical
(6/7) activity.
4= Levocarnitine Supplements
5= Rhabdomyolysis -- Hydration, Isotonic saline, Monitor Electrolytes, and RFTs.
6= Patients & Family counseling regarding disease and Prevention.
4= Levocarnitine Supplements
5= Rhabdomyolysis -- Hydration, Isotonic saline, Monitor Electrolytes, and RFTs.
6= Patients & Family counseling regarding disease and Prevention.
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