USMLE (Fach) / Biochemistry - Genetics (Lektion)
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Maple Syrup Urine Disease
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Branched-Chain Ketoacid Dehydrogenase Deficiency
- unable to matabolize valine, leucine and isoleucine
- infants become lethargic, lose weight- alternating episodes of hypertonia and hypotonia- urine develops a characteristic odor of maple syrup
- ketosis, coma and death ensue if not treated
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