Clinical Case Discussions in Biochemistry [Second Edition] 9789354664472

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Second Edition

Clinical Case Discussion in

Biochemistry A Book on Early Clinical Exposure (ECE) As per CBME Guidelines | Competency Based Undergraduate Curriculum for the Indian Medical Graduate

Poonam Agrawal MBBS MD FIMSA ACME

Professor and Head Department of Biochemistry Dr Baba Saheb Ambedkar Medical College and Hospital New Delhi

CBS Publishers & Distributors Pvt Ltd New Delhi • Bengaluru • Chennai • Kochi • Kolkata • Lucknow • Mumbai Hyderabad • Jharkhand • Nagpur • Patna • Pune • Uttarakhand

v

Disclaimer Science and technology are constantly changing fields. New research and experience broaden the scope of information and knowledge. The authors have tried their best in giving information available to them while preparing the material for this book. Although, all efforts have been made to ensure optimum accuracy of the material, yet it is quite possible some errors might have been left uncorrected. The publisher, the printer and the authors will not be held responsible for any inadvertent errors, omissions or inaccuracies. eISBN: xxxx Copyright © Authors and Publisher Second eBook Edition: 2022 All rights reserved. No part of this eBook may be reproduced or transmitted in any form or by any means, electronic or mechanical, including photocopying, recording, or any information storage and retrieval system without permission, in writing, from the authors and the publisher. Published by Satish Kumar Jain and produced by Varun Jain for CBS Publishers & Distributors Pvt. Ltd. Corporate Office: 204 FIE, Industrial Area, Patparganj, New Delhi-110092 Ph: +91-11-49344934; Fax: +91-11-49344935; Website: www.cbspd.com; www.eduport-global.com; E-mail: [email protected]; [email protected] Head Office: CBS PLAZA, 4819/XI Prahlad Street, 24 Ansari Road, Daryaganj, New Delhi-110002, India. Ph: +91-11-23289259, 23266861, 23266867; Fax: 011-23243014; Website: www.cbspd.com; E-mail: [email protected]; [email protected].

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Representatives Hyderabad Pune Nagpur Manipal Vijayawada Patna

to my father Dr Shri Prakash Agrawal and my father-in-law Mr Ram Baboo Agarwal

Preface to the Second Edition

I

t gives me intense satisfaction and encouragement to see the great response to first edition of Clinical Case Discussion in Biochemistry. I have received innumerable messages/mails from students and faculties from all over India. I thank them all dearly for valuable suggestions they have provided for further improvement of this book. This new edition is improved version of the previous one with many more new questions added for many cases. Hope students and faculties find this edition useful as before. Suggestions are welcome. Regards Poonam Agrawal [email protected]

Preface to the First Edition

C

linical approach to biochemistry has been greatly emphasized for teaching this subject in medical colleges in latest MCI guidelines on Competencies Based Medical Education (CBME) as per GMER regulation 2019. Even in the assessment, the clinical understanding of the subject in form of Case Based Questions (CBQs) is greatly emphasized in latest curriculum. In this context I felt the need of an exclusive book for medical undergraduates which simplify the clinical understanding of biochemistry and make the subject more relevant to learn in medical colleges. The whole journey of writing this book has been an enriching experience. Case presentations are meticulously planned in such a manner that they are typical and close to actual clinical scenarios. CBQs are designed in such a manner as to generate the curiosity in learner mind and at the same time help in clear understanding the biochemistry basics. While describing the clinical connections, special precaution has been taken to keep the discussion simple, keeping in mind that first year medical undergraduate student who is reading this book has no exposure to patients or hospital settings in the real world. This book is first of its kind and I am confident that this book will be very easy to follow by the students. I strongly believe that learners find this book useful in making their clinical concepts clear and make them confident to face Case Based Questions (CBQs) during their assessment. Feedback and comments are most welcomed and will be duly acknowledged in the next edition. Wish you all the very best!! Poonam Agrawal [email protected] You Tube link to my channel: https://www.youtube.com/channel/UCzaWN-XIwROWrV-Aa8NBLiQ/

Acknowledgments

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irst of all, I thank Almighty for giving me strength and courage to work hard to best of my abilities and contribute to medical fraternity. The whole journey of writing this book right from drafting the clinical cases along with the questions which is capable of giving greater insight to the biochemical aspect of the topic has been challenging but at the same time a thrilling experience. I owe my sincere thanks and gratitude to many but first of all I wish to thank my husband Dr Mohit Agarwal, who has been a constant guide and motivator throughout the preparation of this book. His thoughtful insight has been instrumental in designing the book. I appreciate my daughter Misti for her understanding and full cooperation when I was very busy in writing this book and could not completely assist her during her online classes. My pet (peanut) deserves a special mention for giving me company in early morning hours when I used to be the only person awake to write the book.

I am thankful to the whole team of CBS Publishers & Distributors, Mr SK Jain, CMD; Mr YN Arjuna, Senior Vice President—Publishing, Editorial and Publicity; Ms Ritu Chawla, General Manager; Ms Jyoti Kaur, Mr Manish Raj, Mr Neeraj Prasad, Mr Ananda Mohanty and Mr Prasenjit Paul for giving me this opportunity to publish my work. Poonam Agrawal [email protected]

Contents Preface to the Second Edition Preface to the First Edition

v vii

Section I: Carbohydrate Metabolism CASE 1: Classical Galactosemia CASE 2: Glucose-6-Phosphate Dehydrogenase Deficiency CASE 3: Hereditary Fructose Intolerance CASE 4: Lactose Intolerance CASE 5: Sucrose Intolerance CASE 6: Diabetes Mellitus CASE 7: Diabetic Ketoacidosis CASE 8: Correct Vacutainer for Blood Collection for Glucose Estimation CASE 9: von Gierke Disease (Glycogen Storage Disorder Type Ia) CASE 10: Cori Disease/Forbes Disease/Limit Dextrinosis (Glycogen Storage Disorder Type III) CASE 11: McArdle Disease (Glycogen Storage Disorder Type V) CASE 12: Pompe Disease (Glycogen Storage Disorder Type II) CASE 13: Hurler Syndrome (Mucopolysaccharidosis Type I) CASE 14: Hunter Syndrome (Mucopolysaccharidosis Type II)

1 4 8 11 15 18 22 25 28 31 34 38 40 44

Section II: Lipid Metabolism CASE 15: Zellweger Syndrome CASE 16: Refsum Disease CASE 17: Respiratory Distress Syndrome (RDS) CASE 18: Carnitine Deficiency in Premature Baby CASE 19: Type IIa Hyperlipoproteinemia (Familial Hypercholesterolemia) CASE 20: Acute Pancreatitis in Hypertriacylglyceridemia CASE 21: Type III Hyperlipoproteinemia (Remnant Removal Disease or Broad Beta Disease) CASE 22: Xanthelasma CASE 23: Tay-Sachs Disease CASE 24: Niemann-Pick Disease CASE 25: Jamaican Vomiting Sickness CASE 26: Sudden Infant Death Syndrome (SIDS)

47 50 52 54 56 59 61 65 67 69 71 73

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Clinical Case Discussion in Biochemistry

Section III: Amino Acid Metabolism CASE 27: Urea Cycle Disorder 75 CASE 28: Phenylketonuria (PKU) 78 CASE 29: Albinism 81 CASE 30: Vitiligo/Leukoderma 83 CASE 31: Pheochromocytoma 85 CASE 32: Parkinson’s Disease 88 CASE 33: Tyrosinemia Type I [Tyrosinosis] 91 CASE 34: Tyrosinemia Type II [Richner-Hanhart Syndrome/Oculocutaneous Involvement] 93 CASE 35: Alkaptonuria 96 CASE 36: Hartnup Disease 98 CASE 37: B6 Pellagra 101 CASE 38: Carcinoid Syndrome 104 CASE 39: Classical or Typical Homocystinuria 107 CASE 40: Maple Syrup Urine Disease (MSUD) 110 CASE 41: Isovaleric Acidemia 113

Section IV: Enzymes CASE 42: Myocardial Infarction and Enzyme Marker CASE 43: Acute Pancreatitis CASE 44: Ethanol used as Therapeutic Agent in Methanol Poisoning

115 118 121

Section V: Vitamins CASE 45: Scurvy in Adult CASE 46: Scurvy in Child CASE 47: Vitamin B1 Deficiency [Wernicke-Korsakoff Psychosis] CASE 48: Wet Beriberi [Shoshin Beriberi] CASE 49: Ariboflavinosis [Vitamin B2 Deficiency] CASE 50: Pellagra [Niacin Deficiency] CASE 51: B6 Deficiency in Isoniazid (INH) Treatment CASE 52: Biotin Deficiency in Raw Egg Consumption CASE 53: Vitamin B12 Deficiency in Vegans CASE 54: Vitamin B12 Deficiency Presenting as Neurological Manifestation CASE 55: Vitamin B12 Deficiency Presenting as Knuckle Hyperpigmentation

123 126 128 131 133 135 138 140 142 144 146

Contents

xi

CASE 56: Folate Trap CASE 57: Rickets CASE 58: Osteomalacia Case 1 CASE 59: Osteomalacia Case 2 CASE 60: Vitamin D Toxicity CASE 61: Vitamin A Deficiency CASE 62: Vitamin A Toxicity CASE 63: Vitamin K Deficiency in Newborn

148 150 154 156 160 162 164 166

Section VI: Mineral Metabolism CASE 64: Iron Deficiency Anemia CASE 65: Hemosiderosis, Bronze Diabetes, Bantu Siderosis CASE 66: Hypocalcemic Tetany CASE 67: Hypocalcemia in a Case of Respiratory Alkalosis CASE 68: Dental Fluorosis CASE 69: Keshan Disease/Endemic Cardiomyopathy CASE 70: Indian Childhood Cirrhosis CASE 71: Wilson Disease CASE 72: Menke Kinky Steely Hair Syndrome CASE 73: Acrodermatitis Enteropathica CASE 74: Iodine Deficiency Multinodular Goiter [Hypothyroidism]

169 171 174 177 179 181 183 185 187 189 191

Section VII: Nutrition CASE 75: Obesity CASE 76: Marasmus CASE 77: Kwashiorkor

193 196 197

Section VIII: Heme Metabolism CASE 78: Lead Toxicity: Plumboporphyria and Lead-induced Anemia 201 CASE 79: Porphyria Cutanea Tarda [PCT] 203 CASE 80: Acute Intermittent Porphyria [AIP] 206 CASE 81: Prehepatic Jaundice 208 CASE 82: Rh Incompatibility[Erythroblastosis Fetalis] Presenting as Kernicterus 210 CASE 83: Hepatic Jaundice 212

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Clinical Case Discussion in Biochemistry

CASE 84: Posthepatic/Obstructive Jaundice 215 CASE 85: Pathological Jaundice in Newborn (Dubin-Johnson Syndrome) 218

Section IX: Hemoglobinopathy CASE 86: Sickle Cell Hemoglobin (HbS) CASE 87: Thalassemia Major

221 225

Section X: Collagenopathy CASE 88: Marfan Syndrome (MFS) CASE 89: Osteogenesis Imperfecta (Brittle Bone Diseases) CASE 90: Ehlers-Danlos Syndrome

227 231 233

Section XI: Nucleotide Metabolism CASE CASE CASE CASE

91: Gout 92: Lesch-Nyhan Syndrome 93: Methotrexate and Antineoplastic Drug 94: 5-Fluorouracil and its Mechanism of Action

237 241 243 245

Section XII: Miscellaneous CASE 95: Amyl Nitrite as an Antidote of Cyanide Poisoning CASE 96: Cholera Toxicity CASE 97: Multiple Myeloma CASE 98: Nephrotic Syndrome CASE 99: Inclusion Cell Disease (I Cell Disease or Mucolipidosis II) CASE 100: Leber’s Hereditary Optic Neuropathy (LHON)

247 250 252 257 260 262

Section I: Carbohydrate Metabolism

1 Classical Galactosemia A 4-month-old male child presents with the history of repeated loss of consciousness and refusal to feed specially milk and milk-containing diet. On examination, baby was found to be mild icteric and bilateral cataract* was detected. Liver was palpable below costal margin. Following are the results of various laboratory investigations: Blood sugar: 72 mg/dl (normal random blood glucose = 80–140 mg/dl)  Plasma-free galactose: 129 mg/dl (normal =