SYMPTOMS OF CLASSICAL MCAD DEFICIENCY, VARIANT MCAD DEFICIENCY AS WELL AS SILENT MCAD DEFICIENCY, DIAGNOSIS OF MCAD DEFICIENCY, DIFFERENTIAL DIAGNOSIS OF MCAD DEFICIENCY AND TREATMENT AS WELL AS MANAGEMENT OF MCAD DEFICIENCY (2023)
Medium - chain acetyl - CoA dehydrogenase (MCAD) deficiency ia a rare inherited metabolic disorder that shows its influence on the bodys capability to breakdown fatty acids for energy. The symptoms of classical MCAD deficiency typically manifest especially during infancy or early childhood. Variant MCAD deficiency is happened by mutations in the ACADM gene. Symptoms of variant MCAD deficiency are hypoglycemia, vomiting, lethargy, encephalopathy and liver dysfunction. Silent MCAD deficiency is also known as silent medium - chain acyl CoA dehydrogenase deficiency. Symptoms of silent MCAD deficiency are hypoglycemia, fatigue, poor weight gain or growth, encephalopathy, Reye-like syndrome, genetic testing, neuro imaging and Electro encephalogram (EEG) estimations can assist in differentiating epilepsy from MCAD deficiency. Finally it is concluded that treatment is linked to carefully planned diet, carbohydrate - rich diet, medium - chain triglyceride (MCT) oil and genetic counselling
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