Third

Third Edition
Edition

Clinical Case Discussion in

Clinical Case Discussion in Biochemistry More than 100 Clinical Cases Explained on the basis of
Biochemistry and Molecular Biology
A Book on Early Clinical Exposure (ECE) Based on NExT 1 Pattern of Examination
Highlights
• Clinical case based approach to biochemistry for healthcare students
• More than 100 clinical cases presented in sequential and topic wise manner
Third
• Case presentation is followed by sets of questions which are explained in detail
Edition
Edition
• Biochemical basis of clinical signs and symptoms explained in simplified language
• A lot of diagrams, tables included to explain all biochemical dimensions of a
particular case scenario Clinical Case Discussion in
• Ultimate book to prepare medical students for NExT 1 pattern of examination
• Must have book for all healthcare students for learning biochemistry in clinical
correlated manner which help them better understand the disease presentation and
Biochemistry

Biochemistry
its approach.

Poonam Agrawal MBBS, MD, FIMSA, ACME A Book on Early Clinical Exposure (ECE)
is currently Professor and Head, Department of Biochemistry, and MEU Head,
Dr Baba Saheb Ambedkar Medical College and Hospital, New Delhi. She has
As per the latest CBME Guidelines | Competency Based
been actively involved in teaching biochemistry to medical undergraduate
and postgraduate students for the past 17 years. Teaching is her passion and
Undergraduate Curriculum for the Indian Medical Graduate
she is popular among her students for simplified and fascinating approach Vertical and Horizontal Integration Based Approach
towards the subject with strong clinical connections. Other popular books which she has
authored are Competency-Based Textbook of Biochemistry with Clinical Approach and
Case Studies for MBBS Students, Concepts in Biochemistry based on CBME; Practical
Based on NExT 1 Pattern of Examination
Biochemistry based on CBME and Review of Biochemistry for PGMEE, all brought out by
CBSPD.
She has completed Advance Course in Medical Education (ACME) conducted by
MCI in 2017 and has completed and published many innovative projects in the field of
medical education.
She is actively involved in research and patient care and her areas of interest are
diabetic complication, thyroid dysfunction, novel biomarkers and medical education.
She has won a number of awards for her research work presentations at various national
and international events. Poonam Agrawal

Poonam Agrawal
Dedicated to Education

ISBN: 978-93-5466-739-8

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 Third Edition

Clinical Case Discussion in

Biochemistry
Based on NExT-I Pattern of Examination
A Book on Early Clinical Exposure (ECE)
As per the latest CBME Guidelines | Competency Based
Undergraduate Curriculum for the Indian Medical Graduate
 Book Review for Clinical Case Discussion in Biochemistry
Dr Poonam Agrawal

“My gratitude to this book and the amazing author of this masterpiece–our
HOD, Department of Biochemistry–Dr Poonam Agrawal Ma’am is something
that I would never forget and cherish for my whole life as a future doctor.
This book discusses hundreds of clinical cases of medical world with
important biochemical basis for their clinical signs and symptoms, that helped
me to secure distinction in subject of biochemistry for first professional
university examination and make my concepts crystal clear for future as
well, enlightening me on the path of becoming a good doctor.
I truly appreciate the immense hard work and time that ma’am spent on writing this
masterpiece and would encourage other students too, to read this book and fall in love
with the wonderful subject of biochemistry, once again.
Thank you so much ma’am, for all that you have done to make our medical studies
fascinating and guiding us on the path for a bright future...”
Vyomesh Rastogi
3rd Year MBBS student
Dr BSAMCH, New Delhi
College Batch Topper and University Rank 3

The Clinical Case book by Dr Poonam Agrawal Ma’am is very good book. This book
contains all the diseases that should be covered in the first year, up to this time we had
read many diseases. The content of the book is easy to remember and can be written
easily in exam which helps us to score good marks.
Ajay Singh
MBBS
Batch 2022

Clinical Case Discussion

I find Clinical Case book is one of the best books that I have studied, it helps to understand
clinical cases. It gives me feel that we are slowly becoming doctors. These cases fascinates
me a lot...
Alok Pandey
MBBS, 2022 Batch

Feedback of Clinical Case Discussion book

The main highlight of this book is that it covers variety of cases which we will be dealing
with in our clinics. The diagrams and graphs in the book really helps with clear understanding
of the disease and its diagnosis. The question–answer format of the book for every case
makes it very interesting to read and makes understanding of every case clear.
Hardik Dhochak
MBBS
Batch 2022
 Third Edition

Clinical Case Discussion in

Biochemistry
Based on NExT-I Pattern of Examination
A Book on Early Clinical Exposure (ECE)
As per the latest CBME Guidelines | Competency Based
Undergraduate Curriculum for the Indian Medical Graduate

Poonam Agrawal
MBBS MD FIMSA ACME
Professor and Head, Department of Biochemistry
Head, Medical Education Unit
Dr Baba Saheb Ambedkar Medical College and Hospital
New Delhi
Additional Resource Faculty, FDP
Maulana Azad Medical College
New Delhi

CBS Publishers & Distributors Pvt Ltd

New Delhi • Bengaluru • Chennai • Kochi • Kolkata • Lucknow • Mumbai
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 Disclaimer
Science and technology are constantly changing
fields. New research and experience broaden the
scope of information and knowledge. The author
has tried her best in giving information available to
her 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
author will not be held responsible for any
inadvertent errors, omissions or inaccuracies.

ISBN: 978-93-5466-739-8
Copyright © Author and Publisher

Third Edition: 2024

First Edition: 2021
Second Edition: 2022
Reprint: 2023

All rights reserved. No part of this book 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 author and the publisher.

Published by Satish Kumar Jain and produced by Varun Jain for

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 to
my father
Dr Shri Prakash Agrawal and
my father-in-law
Mr Ram Baboo Agarwal
 Preface to the Third Edition

I feel privileged to write Preface to the third edition of this book.

Clinical Case Discussion in Biochemistry was launched in 2021 as a novel and unique
approach to fill the gap in biochemistry of clinical correlation of the subject and provide
ECE (early clinical exposure) to healthcare students. Since that time this book has
gone into two editions and reprints. In this edition, being launched in 2024, I am
presenting completely revised and updated version of the book.
Many additional cases like cystic fibrosis, orotic aciduria, fatty liver in alcoholics
are added on popular demand of faculties and learners from all over India.
In addition to new cases, the existing cases are strengthened with additional questions
and their to-the-point explanations. I have taken this opportunity to add certain more
illustrations like CT film of bronchiectasis, LDL receptors, mitochondrial DNA and
its various elements, link of urea cycle and pyrimidine nucleotide biosynthesis in OTC
deficiency, etc. to make concept more easy to grasp and for better retention.
I strongly believe that students find this edition much more useful than its previous
editions and will help them to correlate biochemistry clinically in hospital and
community set ups.
Feedback and suggestions are most welcome.
Poonam Agrawal
[email protected]
[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

F irst of all, I thank the 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; Mr Vikrant Sharma, Mr Neeraj Prasad, Mr Manish Raj, and Mr Prasenjit
Paul for giving me this opportunity to publish my work.

Poonam Agrawal
[email protected]
 Contents

Preface to the Third Edition vii

Preface to the First Edition ix

Section I: Carbohydrate Metabolism

CASE 1: Classical Galactosemia 1
CASE 2: Glucose-6-Phosphate Dehydrogenase Deficiency 4
CASE 3: Hereditary Fructose Intolerance 8
CASE 4: Lactose Intolerance 11
CASE 5: Sucrose Intolerance 15
CASE 6: Diabetes Mellitus 18
CASE 7: Diabetic Ketoacidosis 22
CASE 8: Correct Vacutainer for Blood Collection for Glucose Estimation 25
CASE 9: von Gierke Disease (Glycogen Storage Disorder Type Ia) 28
CASE 10: Cori Disease/Forbes Disease/Limit Dextrinosis (Glycogen
Storage Disorder Type III) 31
CASE 11: McArdle Disease (Glycogen Storage Disorder Type V) 34
CASE 12: Pompe Disease (Glycogen Storage Disorder Type II) 38
CASE 13: Hurler Syndrome (Mucopolysaccharidosis Type I) 40
CASE 14: Hunter Syndrome (Mucopolysaccharidosis Type II) 44

Section II: Lipid Metabolism

CASE 15: Zellweger Syndrome 47
CASE 16: Refsum Disease 50
CASE 17: Respiratory Distress Syndrome (RDS) 52
CASE 18: Carnitine Deficiency in Premature Baby 54
CASE 19: Type IIa Hyperlipoproteinemia (Familial Hypercholesterolemia) 56
CASE 20: Acute Pancreatitis in Hypertriacylglyceridemia 59
CASE 21: Type III Hyperlipoproteinemia (Remnant Removal Disease or
Broad Beta Disease) 61
CASE 22: Xanthelasma 65
CASE 23: Tay-Sachs Disease 67
CASE 24: Niemann-Pick Disease 69
CASE 25: Jamaican Vomiting Sickness 71
CASE 26: Sudden Infant Death Syndrome (SIDS) 73
xii 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’s 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 115
CASE 43: Acute Pancreatitis 118
CASE 44: Ethanol used as Therapeutic Agent in Methanol Poisoning 121

Section V: Vitamins
CASE 45: Scurvy in Adult 123
CASE 46: Scurvy in Child 126
CASE 47: Vitamin B1 Deficiency [Wernicke-Korsakoff Psychosis] 128
CASE 48: Wet Beriberi [Shoshin Beriberi] 131
CASE 49: Ariboflavinosis [Vitamin B2 Deficiency] 133
CASE 50: Pellagra [Niacin Deficiency] 135
CASE 51: B6 Deficiency in Isoniazid (INH) Treatment 138
CASE 52: Biotin Deficiency in Raw Egg Consumption 140
CASE 53: Vitamin B12 Deficiency in Vegans 142
CASE 54: Vitamin B12 Deficiency Presenting as Neurological Manifestation 144
CASE 55: Vitamin B12 Deficiency Presenting as Knuckle Hyperpigmentation 146
CASE 56: Folate Trap 148
 Contents xiii

CASE 57: Rickets 150

CASE 58: Osteomalacia Case 1 154
CASE 59: Osteomalacia Case 2 156
CASE 60: Vitamin D Toxicity 160
CASE 61: Vitamin A Deficiency 162
CASE 62: Vitamin A Toxicity 164
CASE 63: Vitamin K Deficiency in Newborn 166

Section VI: Mineral Metabolism

CASE 64: Iron Deficiency Anemia 169
CASE 65: Hemosiderosis, Bronze Diabetes, Bantu Siderosis 171
CASE 66: Hypocalcemic Tetany 174
CASE 67: Hypocalcemia in a Case of Respiratory Alkalosis 177
CASE 68: Dental Fluorosis 179
CASE 69: Keshan Disease/Endemic Cardiomyopathy 181
CASE 70: Indian Childhood Cirrhosis 183
CASE 71: Wilson Disease 185
CASE 72: Menke Kinky Steely Hair Syndrome 187
CASE 73: Acrodermatitis Enteropathica 189
CASE 74: Iodine Deficiency Multinodular Goiter [Hypothyroidism] 191

Section VII: Nutrition

CASE 75: Obesity 193
CASE 76: Marasmus 196
CASE 77: Kwashiorkor 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
CASE 84: Posthepatic/Obstructive Jaundice 215
CASE 85: Pathological Jaundice in Newborn
(Dubin-Johnson Syndrome) 218
xiv Clinical Case Discussion in Biochemistry

Section IX: Hemoglobinopathy

CASE 86: Sickle Cell Disease 221
CASE 87: Thalassemia Major 225

Section X: Collagenopathy
CASE 88: Marfan Syndrome (MFS) 227
CASE 89: Osteogenesis Imperfecta (Brittle Bone Diseases) 231
CASE 90: Ehlers-Danlos Syndrome 233

Section XI: Nucleotide Metabolism

CASE 91: Gout 237
CASE 92: Lesch-Nyhan Syndrome 241
CASE 93: Methotrexate and Antineoplastic Drug 243
CASE 94: 5-Fluorouracil and its Mechanism of Action 245

Section XII: Miscellaneous

CASE 95: Amyl Nitrite as an Antidote of Cyanide Poisoning 247
CASE 96: Cholera Toxicity 250
CASE 97: Multiple Myeloma 252
CASE 98: Nephrotic Syndrome 257
CASE 99: Inclusion Cell Disease (I Cell Disease or Mucolipidosis II) 260
CASE 100: Leber Hereditary Optic Neuropathy (LHON)/
Congenital Amaurosis 262
CASE 101: Cystic Fibrosis 265
CASE 102: Orotic Aciduria 268
CASE 103: Fatty Liver in an Alcoholic Patient 272

Index 275