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Section-03 Metabolic Disorders

BOOK TITLE: PG Textbook of Pediatrics

Author
1. Puri Ratna Dua
2. Dalal Ashwin
3. Kabra Madhulika
4. Gulati Sheffali
5. Verma IC
6. Kapoor Seema
7. Gupta Neerja
8. Muranjan Mamta
9. Chakrabarty Biswaroop
10. Goyal Manisha
11. Jalan Anil B
12. Kudalkar Ketki V
13. Bijarnia-Mahay Sunita
14. Tamhankar Parag M
15. Jalan Rishikesh A
16. Shinde Durga H
ISBN
9789352702312
DOI
10.5005/jp/books/18580_4
Edition
2/e
Publishing Year
2018
Pages
113
Author Affiliations
1. Center for Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India, Ganga Ram Institute of Postgraduate Medical Education and Research, Center of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India, Ganga Ram Institute of Postgraduate Medical Education and Research, New Delhi, Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India, Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India, Ganga Ram Institute of Postgraduate Medical Education and Research; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India, The Ganga Ram Institute for Postgraduate Medical Education and Research (GRIPMER); Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India, Center of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India
2. Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Andhra Pradesh, India, Center for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India, Centre for DNA Fingerprinting and Diagnostics Hyderabad, Telangana; Kasturba Medical College, Manipal, Karnataka, India, Fingerprinting and Diagnostics, [Ministry of Science and Technology, Government of India], Hyderabad, Telangana, India
3. All India Institutes of Medical Sciences (AIIMS), New Delhi, India, New Delhi, All India Institute of Medical Sciences (AIIMS), New Delhi, India, All India Institute of Medical Sciences, New Delhi, All India Institute of Medical Sciences Ansari Nagar, New Delhi, India, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India, AIIMS, New Delhi, India, All India Institute of Medical Sciences, New Delhi, India, All India Institute of Medical Sciences, New Delhi 110029, India
4. All India Institute of Medical Sciences, New Delhi; Centre of Excellence and Advanced, Research for Childhood, Neurodevelopmental Disorders, Center of Excellence and Advanced Research for Childhood Neurodevelopmental Disorders; All India Institute of Medical Sciences, New Delhi, India, AIIMS, New Delhi, India, All India Institute of Medical Sciences, New Delhi, All India Institute of Health Sciences, New Delhi, India, All India Institute of Medical Sciences, New Delhi, India, e-mail: sheffalig@hotmail.com, All India Institute of Medical Sciences (AIIMS), New Delhi, India, All India Institute of Medical Sciences, New Delhi, India
5. Sir Gangaram Hospital, New Delhi, India, Clinical Genetics, Sir Ganga Ram Hospital, New Delhi, India, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India, Sir Ganga Ram Hospital, New Delhi, Email dr_icverma@yahoo.com, Sir Ganga Ram Hospital, New Delhi, Sir Ganga Ram Hospital, New Delhi, India, Center of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India, Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
6. MAM College, Delhi, Lok Nayak Hospital and Maulana Azad Medical College, New Delhi, India, Maulana Azad Medical College and Associated Lok Nayak Hospital, New Delhi, India, Maulana Azad Medical College, New Delhi India, Maulana Azad Medical College, New Delhi, India, Lok Nayak Hospital, Maulana Azad Medical College, New Delhi, India
7. All India Institute of Medical Sciences, New Delhi, India, All India Institute of Medical Sciences, New Delhi 110029, India, New Delhi, All India Institute of Medical Sciences (AIIMS), New Delhi, India
8. KEMH, Mumbai, Genetic Clinic, Seth GS Medical College and KEM Hospital; PD Hinduja National Hospital and Research Center, Mumbai, Maharashtra, India, Genetic Clinic, Seth GS Medical College and KEM Hospital, Parel, Mumbai; Medical Research Center Mahim, Mumbai, SRCC Hospital, Mumbai, Maharashtra, India, Seth GS Medical College and King Edward Memorial Hospital, PD Hinduja National Hospital and Medical Research Centre and NH SRCC Children’s Hospital, Mumbai, Maharashtra, India, Seth GS Medical College and KEM Hospital; PD Hinduja National Hospital and Research Center, Mumbai, Maharashtra, India
9. All India Institute of Medical Sciences, New Delhi, India, AIIMS, New Delhi, India
10. Maulana Azad Medical College and Lok Nayak Hospital, New Delhi, India, JK Lon Hospital, SMS Medical College, Jaipur, Rajasthan, India, Maulana Azad Medical College, New Delhi, India, Lok Nayak Hospital and Maulana Azad Medical College, New Delhi, India
11. Navi Mumbai Institute of Research in Mental and Neuro Handicap, Navi Mumbai, Maharashtra, India, NIRMAN, Navi Mumbai, Maharashtra, India, Navi Mumbai Institute of Research in Mental and Neurological Handicap, Navi Mumbai, Maharashtra, India
12. Navi Mumbai Institute of Research in Mental and Neurological Handicap, Navi Mumbai, Maharashtra, India, NIRMAN, Navi Mumbai, Maharashtra, India, NIRMAN, Institute of Research in Mental and Neurological Handicap, Navi Mumbai, Maharashtra, India
13. Ganga Ram Institute of Postgraduate Medical Education and Research, Sir Ganga Ram Hospital, New Delhi, India, Ganga Ram Institute of Postgraduate, Medical Education and Research, Indraprastha University; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India, Sir Ganga Ram Hospital, New Delhi; Sir Ganga Ram Hospital (SGRH), New Delhi, India, Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India, Ganga Ram Institute of Postgraduate Medical Education and Research; Center of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India
14. ICMR Genetic Research Center, National Institute for Research in Reproductive Health, Mumbai, Maharashtra, India, Medgenome Labs, Bengaluru, Karnataka, India
15. NIRMAN, Navi Mumbai, Maharashtra, India, Navi Mumbai Institute of Research in Mental and Neurological Handicap, Navi Mumbai, Maharashtra, India
16. Navi Mumbai Institute of Research in Mental and Neurological Handicap, Navi Mumbai, Maharashtra, India
Chapter keywords
Metabolic disorder, inborn errors of metabolism, amino acid metabolism defect, urea cycle disorder, organic acidemia, fatty acid oxidation defect, mitochondrial disorder, peroxisomal disorder, lysosomal storage disorder, Gaucher disease, Niemann-pick disease, fabry disease, glycogen storage disease, pompe disease, mucopolysaccharidoses, hypoglycemia, porphyrias, newborn screening

Abstract

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