Inborn errors of metabolism and their status in India.
Inborn errors of metabolism (IEM) have a characteristic clinical presentation overlapping with infection and intoxication. Diagnostic modalities for IEM vary from biochemical to molecular methods including next-generation sequencing. Therapeutic options including substrate restriction, enzyme replacement, chaperone administration, and organ transplant are promising for management of patients with IEM. Prenatal diagnosis and newborn screening help to reduce the societal burden as well as the morbidity due to IEM. IEM occur in India, and the need of the time is to have large diagnostic and screening programs to dilute the gene pool.
Department of Laboratory Medicine, P.D. Hinduja National Hospital and Medical Research Center, Veer Savarkar Marg, Mahim, Mumbai, Maharashtra, India. alpadherai@gmail.com
Alpa J
AJ
Dherai
D006801:Humans; D007194:India; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000628:therapy*; D015997:Neonatal Screening