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Summary of Amino acid disorders with easy recall mnemonics
- November 16, 2024
- Posted by: Namrata Chhabra
- Category: Metabolism of Amino acids Amino acid metabolism Quick revisions Quick revisions USMLE Content
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Disorder Defective Enzyme/Transporter Clinical Picture Mnemonic Phenylketonuria (PKU) Phenylalanine hydroxylase Musty body odor, intellectual disability, seizures, pale skin, eczema Pale kids with Krappy Urine Alkaptonuria Homogentisic acid oxidase Black urine, ochronosis (bluish-black pigmentation in connective tissues), arthritis Black CAP: Cartilage, Arthritis, Pigmentation Maple Syrup Urine Disease (MSUD) Branched-chain α-ketoacid dehydrogenase Sweet-smelling urine, poor feeding,…
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Author:Namrata Chhabra
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With over 38 years of experience as a Medical Educator, Medical Biochemist, and Researcher, Dr. Namrata Chhabra has a proven track record of leading and contributing to clinical, academic, and research initiatives that advance medical science and education. She holds an M.B.B.S., an M.D. and Ph.D. in Medical Biochemistry, and a Master's in Health Professions Education (MHPE). She is also a FAIMER Fellow, a prestigious recognition of her excellence in medical education and research.
Currently, she serves as the Associate Dean of Academic Affairs, Chair of the Admissions Committee, and a Professor of Biochemistry at the American University of Antigua College of Medicine (AUACOM). In this role, she oversees the academic quality, curriculum development, faculty development, accreditation processes of the college, and student recruitment. She also teaches and mentors medical students, conducts and supervises biomedical and educational research projects, and publishes and presents her findings in national and international journals and conferences. Additionally, she is the author of three comprehensive textbooks on Medical Biochemistry, which are widely used by medical students and professionals. She is passionate about improving the health outcomes of communities and individuals by fostering a culture of innovation, collaboration, and excellence in medical education and research.