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All material is copyrighted and the property of mehlmanmedical. Copyright © 2020 mehlmanmedical. Privacy Policy and Terms and Conditions Let’s face it, the urea cycle is dry and annoying as …
Urea cycle, Orotic aciduria, OTC deficiency See Full PostAll material is copyrighted and the property of mehlmanmedical. Copyright © 2020 mehlmanmedical. Privacy Policy and Terms and Conditions Almost always, PKU is due to deficiency of phenylalanine hydroxylase. Rarely, …
Phenylketonuria (PKU) See Full PostAll material is copyrighted and the property of mehlmanmedical. Copyright © 2020 mehlmanmedical. Privacy Policy and Terms and Conditions For some magical reason, this is a USMLE favorite. It is …
Alkaptonuria See Full PostAll material is copyrighted and the property of mehlmanmedical. Copyright © 2020 mehlmanmedical. Privacy Policy and Terms and Conditions Cystine = 2 cysteine molecules bound together by a disulfide bond. …
Cystinuria See Full PostAll material is copyrighted and the property of mehlmanmedical. Copyright © 2020 mehlmanmedical. Privacy Policy and Terms and Conditions Homocystinuria is an AR disease characterized by a buildup of homocysteine …
Homocystinuria See Full PostAll material is copyrighted and the property of mehlmanmedical. Copyright © 2020 mehlmanmedical. Privacy Policy and Terms and Conditions This is an interesting disease that doesn’t come up conversationally or …
Menkes syndrome See Full PostAll material is copyrighted and the property of mehlmanmedical. Copyright © 2020 mehlmanmedical. Privacy Policy and Terms and Conditions Hartnup disease Characterized by a decreased ability to reabsorb non-polar amino …
Hartnup disease and Fanconi syndrome See Full PostAll material is copyrighted and the property of mehlmanmedical. Copyright © 2020 mehlmanmedical. Privacy Policy and Terms and Conditions In this condition, the USMLE will mention that there are increased …
Maple syrup urine disease See Full PostAll material is copyrighted and the property of mehlmanmedical. Copyright © 2020 mehlmanmedical. Privacy Policy and Terms and Conditions An important point about glycogen metabolism is the functionality of glycogen …
Regulation of glycogen metabolism See Full PostAll material is copyrighted and the property of mehlmanmedical. Copyright © 2020 mehlmanmedical. Privacy Policy and Terms and Conditions These are all autosomal recessive. I will not talk about them …
Glycogen storage diseases See Full Post