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Clinical Manual for Inborn Errors of Metabolism

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Forward India with its socio-demographic transition and tremendous advancement in medical facilities and economic independence holds a promising future in the area of healthcare. In spite of the improvements in health care and diagnostic facility, no substantial gain is noticed in infant mortality and morbidity rates as genetic disorders have emerged as leading causes after considerable control of Communicable Diseases. However, in the absence of any screening programme, the treatable...
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India with its socio-demographic transition and tremendous advancement in medical facilities and economic independence holds a promising future in the area of healthcare. In spite of the improvements in health care and diagnostic facility, no substantial gain is noticed in infant mortality and morbidity rates as genetic disorders have emerged as leading causes after considerable control of Communicable Diseases.

However, in the absence of any screening programme, the treatable metabolic disorders continue to affect large number of infants in the country. A rough estimate indicates that 5-15% of new born babies may have a metabolic problem.

Realising the need for a national new born screening programme for Inborn Metabolic Disorders(lMDs) the Council constituted a National Task Force to create a comprehensive programme for laboratory diagnosis and clinical management of IMDs. In the shortest time, the Task Force Group has conducted a series of laboratory hands on training workshops at Bangalore and clinical workshop at New Delhi for capacity building in laboratory and clinical methodologies. This was followed by a multicentric new born screening programme for identified metabolic disorders.

I congratulate the National Task Force on Inborn Metabolic Disorders under the chairmanship of Prof. S. S. Agarwal, Lucknow for their achievements in this area. I appreciate the efforts of Dr. Taranath Shetty, Bangalore in compiling the laboratory manual and Dr. Veena Kalra, New Delhi and her team for this excellent Clinical Manual which will be the first one of its kind in the Country. This will go a longway in helping the professionals in accurate diagnosis and appropriate clinical management. I am sure this document will benefit a large number of professionals and students in the country.

 

Preface

Inborn Errors of Metabolism(IEM) or Inborn Metabolic Disorders (IMD) inspite of being rare, comprise of over 500 different known disorders and possibly even more awaiting to be characterized making it a difficult proposition for any given nation to have all the infrastructure facilities and the expertise for laboratory and clinical diagnosis.

IEM/IMD is recognized as one of the major cause of mortality in the infant age group and morbidity if). 'the adulthood, both in developing and developed countries. In most developed countries, the screening for IMD has been inducted in the public health program, whereas in developing countries they are at their nascent stage. What mars it further is the lack of information about the burden of these diseases.

This heterogeneous group of genetic disorders affect the metabolic pathways resulting in high infant mortality and adolescent and adult morbidity. The symptoms of these diseases manifest at different point of life span, viz. infertile, juvenile, adolescent and adulthood, in varies clinical presentation.

With improvement in the overall medical facilities, technologies advancement and move towards eradication and control of communicable and non communicable disease, the need of the hour is to systematically collect data and analyze the burden of disease due to IEM/IMD.

In recognition to this National call, Indian Council of Medical Research constituted a National Task Force group, comprising of experts from various regions of the country. The aims of this task force is to recognize the spectrum of the disease, critically look into the Knowledge, Attitude, and Practice (KAP) of the existing work force, estimate the burden of the disease, calibrate the diagnostic approach and capacity building for the possible interventions to mitigate the suffering of the affected groups.

As a part of the Task Force activity a series of laboratory training programmes were conducted at NIMHAI':'S, Bangalore and a laboratory manual was prepared for the benefit of all laboratory personnel. "Similarly, a clinical workshop was organized at AIIMS, New Delhi and this clinical manual has been prepared for the benefit of the clinicians and geneticists throughout the country and the effort of Dr. Veena Kalra, Dr. Madhulika Kabra and Dr. Seem a Kapoor in bringing this out in record time is well appreciated. We hope that this manual will greatly help practicing pediatricians and other physicians in handling cases of IEM/IMD.

 

Contents

 

  Foreword iii
  Dr. NK Ganguly  
  Preface v
  Dr. Vasantha Muthuswamy  
  Acknowledgements vii
  Dr.Vasantha Muthuswamy  
  From the Editor's Desk ix
  Dr. Veena Kalra  
1 Inborn error of Metabolism- The Indian Scene 1-4
  Dr. IC Verma  
2 New born Screening in India-Current Status 5-8
  Dr.A. Radha Rama Devi  
3 Approach Inherited Metabolic Disorders- An Overview 9-20
  Dr. Madhulika Kabra  
4 Approach to Inborn Metabolic Errors in the Neonatal Period 21-29
  Dr. S. Ramji & Dr. Seema Kapoor  
5 Approach to Inborn Metabolic Errors in Infancy 30-40
  Dr. Seema Kapoor  
6 Diagnosis of Childhood onset Inborn Errors of Metabolism 41-54
  Dr. Mamta Muranjan & Dr. Rajkumar Aggarwal  
7 Urea Cycle Disorders 55-66
  Dr.Satinder Aneja & Dr.Anita Sharma & Dr. Anil B. Jain  
8 Aminoacidopathies-Clinical Phenotype and Mannagement 67-80
  Dr. Ratna D Puri & Dr. Sunita Bijarnia & Dr. I.C.Verma  
9 Organic Acidurias: Clinical Phenotype and Mangement 81-91
  Dr. Sheffali Gulati  
10 Mitochondrial Disorders: Clinical Phenotype & Management 92-102
  Dr. Veena Kalra  
11 Mitochondrial Fatty Acid Beta-Oxidation Defects 103-108
  Dr. Vrajesh Udani & Dr. Mahesh Kamte  
12 Hypoglycemia and Inheited Metobolic Disorders 109-122
  Dr. Rashmi Kumar  
13 Hepatic Manifestation of Inborn Errors of Metabolism (IEM) 123-134
  Dr.N.K. Arora. Dr. R.Mishr, Dr.M.Das, Dr.V. Bhatia & Dr.S. Gupta  
14 Role of Tandem Mass Soectrometry in Screening for Inborn Metabolic Disorder 135-139
  Dr. Manjeet Kaur  
15 Role of Gas Chromatography/ Mass Spectrometry (GC/MS) in inborn Metabolic Disorders 140- 144
  Dr. Usha P. Dava  
16 General Priciples of Treatment of Inborn Error of Metabolism 145-151
  Dr. Rekha Mittal & Dr. Bidisha Banerjee  
17 Dietary Management of Inborn Errors of Metabolism 152-161
  Dr. Madhulika Kabra & Dr. Neerja Gupta  
18 Inborn Error of Metabolism: Genetic Counseling & Prenatal Diagnosis 162-171
  Dr.Shubha R. Phadke  
19 Appendix on Pharmacotheraphy for Inborn errors of Metabolism 172-179
  Dr. Mamta Maranjan  
20 Appendix on special Diets 180-188
  Dr. Anil B.Jalan  

Sample Pages



Item Code: NAL016 Author: Veena Kalra Cover: Paperback Edition: 2008 Publisher: Indian Council of Medical Research ISBN: 8190185357 Language: English Size: 9.0 inch X 7.0 inch Pages: 200 Other Details: Weight of the Book: 466 gms
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