Genetic counselling for inborn error of metabolism


  • Komal Uppal Department of Paediatrics, Genetic Division, Lok Nayak Hospital, New Delhi, India
  • Richa Nijhawan Department of Paediatrics, Genetic Division, Lok Nayak Hospital, New Delhi, India
  • Seema Thakur Genetic and Fetal Diagnosis Unit, Fortis Hospital, Delhi, India



Inborn error of metabolic, Genetic counselling, Pretest, Post test


Inborn error of metabolic (IEM) disorders being an important contributor for neonatal morbidity and mortality require unique and multidisciplinary health care including genetic counselling to reduce the burden of these disorders and to improve the quality of life of the patient. Genetic counselling, besides its basic elements, clinical genetic aspects and management of IEMs; also helps to understand family's knowledge and attitude towards the disorder, to motivate them to accept and adapt to the situation. Through this paper we are sharing our experience of providing genetic counselling to patients of metabolic disorders and emphasizing the role of counselling in imparting right directive care and to find possible ways to face the formidable challenges.


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