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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, vomiting, lethargy, developmental delays | I LoVe Maple Syrup: Isoleucine, Leucine, Valine |
Homocystinuria | Cystathionine β-synthase | Lens dislocation, marfanoid habitus, intellectual disability, thromboembolism | HOMOCY: Homocysteine in urine, Osteoporosis, Marfanoid, Ocular issues, CV risk, Younger thrombus |
Tyrosinemia Type I | Fumarylacetoacetate hydrolase | Liver and kidney failure, cabbage-like odor, failure to thrive | Tyrosine in liver is toxic |
Cystinuria | Defective renal reabsorption of cystine | Recurrent kidney stones (cystine crystals) | COLA: Cystine, Ornithine, Lysine, Arginine |
Argininosuccinic Aciduria | Argininosuccinate lyase | Hyperammonemia, lethargy, seizures, growth delays | Arginine Stops (succinate) ammonia buildup |
Ornithine Transcarbamylase (OTC) Deficiency | Ornithine transcarbamylase | Hyperammonemia, orotic acid in urine, lethargy, vomiting, confusion | OTC: Orotic acid, Toxic ammonia, Confusion |
Hartnup Disease | Defective neutral amino acid transporter | Photosensitivity, ataxia, rash resembling pellagra (niacin deficiency due to tryptophan loss) | HART: High-light sensitive, Ataxia, Rash, Tryptophan loss |
Primary Hyperoxaluria | Glyoxylate aminotransferase | Recurrent calcium oxalate kidney stones, renal failure, systemic oxalosis | OX: Excess oxalate leads to Systemic Oxalosis |
Author:Namrata Chhabra

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 Admissions, 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.