Clinical Manual for Inborn Errors of Metabolism



Dr. NK Ganguly

Dr. Vasantha Muthuswamy

Dr. Vasantha Muthuswamy


From the Editor’s Desk
Dr. Veena Kalra

Inborn error of Metabolism – The Indian Scene
Dr. IC Verma

New born Screening in India-Current Status
Dr. A. Radha Rama Devi

Approach Inherited Metabolic Disorders- An overview 
Dr. Madhulika Kabra

Approach to Inborn Metobolic Errors in the Neonatal Period
Dr. S. Ramji & Dr. Seema Kapoor

Approach to inborn Metabolic Errors in Infancy
Dr. Seema Kapoor

Diagnosis of Childhood onset Inborn Errors of Metabolism
Dr. Mamta Muranjan & Dr. Rajkumar Agarwal

Urea cycle Disorders
Dr. Satinder Aneja & Dr. Anita Sharma & Dr. Anil B. Jalan

Aminoacidopathies- Clinical Phenotype and Mannagement
Dr. Ratna D Puri & Dr. Sunita Bijarnia & Dr. I.C.Verma

Organic Acidurias: Clinical Phenotype and Management
Dr. Sheffali Gulati

Mitochondrial Disorders: Clinical Phenotype & Management
Dr. Veena Kalra

Mitochondrial Fatty Acid Beta-Oxidation Defects
Dr. Vrajesh Udani & Dr. Mahesh Kamte

Hypoglycemia and Inheited Metobolic Disorders
Dr. Rashmi Kumar

Hepatic Manifestations of Inborn Errors of Metabolism (IEM)
Dr. N.K.Arora, Dr. R.Mishr, Dr. M.Das,Dr. V. Bhatia & Dr. S. Gupta

Role of Tandem Mass Soectrometry in Screening for Inborn Metabolic Disorders
Dr. Manjeet Kaur

Role of Gas Chromatography/ Mass Spectrometry (GC/MS) in inborn Metabolic Disorders
Dr. Usha P. Dave

General Principles of Treatment of Inborn Errors of Metabolism
Dr. Rekha Mittal & Dr. Bidisha Banerjee

Dietary Management of Inborn Errors of Metabolism
Dr. Madhulika Kabra & Dr. Neerja Gupta

Inborn Errors of Metabolism: Genetic Counseling & Prenatal Diagnosis
Dr. Shubha R. Phadke

Appendix on Pharmacotherapy for Inborn errors of Metabolism
Dr. Mamta Maranjan

Appendix on special Diets
Dr. Anil B.Jalan

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