Pediatric Metabolic Disorders Specialist in Delhi NCR

 A Pediatric Metabolic Disorders Specialist (PMD) specializes in the diagnosis, treatment, and prevention of children with inherited metabolic disorders. These physicians are particularly adept at providing comprehensive diagnostic evaluations, testing, and interpretation of test results. They can also offer long-term medical and nutritional management. To learn more, read our articles on genetic counseling and metabolic disorders.

Dr. Atish Bakane

Dr. Atish Narayanrao Bakane is one of the most prominent and dynamic Pediatric Hemato-Oncologist and BMT Experts in India with international repute who has experience working with the most experienced centers. Hematopoietic Stem cell Transplantation is considered the most precise form of curative modalities for various benign and malignant disorders currently available in the world. Currently, he is working as a Consultant in Pediatric Hemato-Oncology, Bone Marrow Transplant & Cellular Therapy, at Indraprastha Apollo Hospital.

Dr. Atish Narayanrao Bakane is also the Best Pediatric Metabolic Disorders Specialist in Delhi NCR at Indraprastha Apollo Hospital. He is the most prominent and dynamic Pediatric Hemato-Oncologist and BMT Expert in India with international repute.

Inherited metabolic disorders

Inherited metabolic disorders (IMDs) are a group of rare single-gene diseases that affect a person's metabolism. They can manifest as acute metabolic crises or insidious symptoms that eventually lead to chronic multisystemic sequelae. Advances in medical interventions have increased life expectancy for patients with IMDs, and new therapies are emerging at a rapid rate. Treatment is often based on highly specialized medications and diets. A child's life can be greatly affected, and so does their family and health care system.

Movement disorders are among the neurological manifestations of inherited metabolic disorders. Early onset, maternal consanguinity, and sibling affection are common clues that a child has this disease. Symptoms of movement disorders may also include paroxysmal events, elevated intracranial pressure, or organ-specific functional derangements. In some cases, there may be no structural cause for the movement disorder, in which case treatment may involve disease-specific therapies.

Treatment

A pediatric metabolic disorder is a serious condition that impairs an individual's ability to produce or break down an essential substance during digestion. These disorders are typically hereditary and can be detected through newborn screening. Genetically inherited, metabolic disorders are a type of genetic disorder, which disrupts the function of a particular gene or genes. The disorder can result in long-term disabilities or life-threatening consequences. This disorder is caused by a lack of proper regulation of the body's metabolism, which can adversely affect the development of organs.

The Metabolic Clinic staff conducts a detailed evaluation of patients with metabolic diseases and their families. They recommend additional testing to evaluate their individual needs. They also offer genetic counseling and education for families impacted by MPS disorders. Finally, they coordinate the provision of clinically available enzyme replacement therapy for patients with metabolic diseases. Children's Health Special Procedures Clinic nurses provide this therapy. Those with genetic disorders may also be referred to a metabolic disorder specialist.

Genetic counseling

While multidisciplinary care for metabolic disorders is not new, this approach was recently reported as the first written report on this topic. Pediatric patients with complex medical needs may benefit from genetic counseling at frequent intervals, instead of in a single visit. The counseling sessions may also involve genetic testing. When results are available, a family can then make informed decisions based on the findings of the genetic tests. Genetic counseling for pediatric metabolic disorders can help identify genetic disorders early and ensure a child's healthy development.

Genetic counselors provide context for parents. They can reinforce normalizing statements and help them understand the medical genetic background of a child's condition. Understanding the underlying cause can reduce parental feelings of guilt and provide some context for coping with the new information. Genetic counselors also help parents learn complex information, such as the genetics of disease. Genetic counselors are often certified by the National Society of Genetic Counselors and the American Board of Medical Genetics.

Location: New Delhi, Delhi, India

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