Maple Syrup Urine Disease - Inborn errors of metabolism - Biochemistry & Genetics

Maple Syrup Urine Disease (MSUD), Urine smells like burnt sugar or caramel (characteristic urine odor)…It’s an inborn error of metabolism due to deficiency of the branched chain alpha-ketoacid dehydrogenase enzyme. Accumulation of amino acids valine, leucine, and isoleucine (branched amino acids) is noticed in the urine sample…Symptoms include vomiting, low blood sugar (hypoglycemia), neurological decline, and failure to thrive, metabolism, catabolism, anabolism, adrenal medulla, adrenal gland, autosomal recessive, genetics, electron transport chain (ETC), bones, cartilages, arthritis, Chromatography, biochemistry, doctors, nurses, USMLE, NCLEX, MBBS, COMLEX, PLAB, PANCE, PANRE, hormones, insulin, glucagon, ophthalmology.

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