IEM Disorders in India
Inborn Errors of Metabolism (IEM) are rare genetic disorders that affect nutrient processing in the body. Learn about IEM types, symptoms, causes, diagnosis, and management options in India.
Metabolic disorders, particularly Inborn Errors of Metabolism (IEM), are a group of rare genetic conditions that affect how the body processes food into energy. In India, where awareness and diagnosis of these disorders remain low, many patients and families struggle to understand the condition and seek timely treatment. This article aims to provide clear, compassionate information about IEM disorders, their symptoms, causes, and management strategies.
What Are IEM Disorders?
Inborn Errors of Metabolism (IEM) are genetic conditions where the body cannot properly break down certain nutrients (proteins, fats, or carbohydrates) due to missing or malfunctioning enzymes. This leads to a buildup of toxic substances or a deficiency of essential compounds, affecting growth, development, and overall health.
Some common IEM disorders in India include:
Phenylketonuria (PKU) – Inability to process phenylalanine (an amino acid).
Galactosemia – Inability to digest galactose (a sugar found in milk).
Maple Syrup Urine Disease (MSUD) – Trouble breaking down certain amino acids, leading to a sweet-smelling urine.
G6PD Deficiency – A condition where red blood cells break down when exposed to certain foods or medications.
Symptoms of IEM Disorders
Symptoms vary depending on the specific disorder but may appear soon after birth or later in childhood. Common signs include:
Poor feeding, vomiting, or failure to thrive in infants
Developmental delays or intellectual disabilities
Seizures or unusual movements
Unusual body odor (e.g., sweet or musty smell)
Jaundice (yellowing of skin and eyes)
Low muscle tone (floppy baby syndrome)
Frequent infections or organ dysfunction
If your child shows any of these symptoms, consult a doctor immediately for further testing.
Causes of IEM Disorders
IEM disorders are inherited, meaning they are passed down from parents who carry faulty genes. Most follow an autosomal recessive pattern, meaning both parents must pass on the defective gene for the child to develop the disorder.
Factors increasing risk in India:
Consanguineous marriages (marriages between close relatives)
Lack of newborn screening programs (many cases go undiagnosed)
Limited awareness among parents and healthcare providers
How Are IEM Disorders Diagnosed?
Early diagnosis is crucial to prevent complications. Tests include:
Newborn screening (blood tests to detect metabolic disorders)
Genetic testing (identifies specific gene mutations)
Urine and blood tests (check for abnormal metabolites)
Enzyme activity tests (measure enzyme function)
In India, newborn screening is not yet mandatory, but some private hospitals and diagnostic centers offer it. If you suspect an IEM disorder, ask your doctor about specialized tests.
Consult a Specialist for Personalised Advice
Managing IEM Disorders
While there is no cure for most IEM disorders, early intervention and proper management can help children lead healthier lives. Treatment options include:
1. Dietary Modifications
Special formulas (for infants who cannot digest breast milk or regular formula)
Restricted diets (avoiding certain proteins, sugars, or fats)
Medical foods (nutritional supplements designed for metabolic disorders)
2. Medications & Supplements
Enzyme replacement therapy (for some disorders)
Vitamins and cofactors (to support metabolism)
3. Regular Monitoring
Frequent blood tests to check metabolic levels
Growth and developmental assessments
4. Genetic Counseling
Helps families understand inheritance risks for future pregnancies
Living with an IEM Disorder: Tips for Families
1. Strictly Follow the Diet Plan – Even small deviations can trigger symptoms.
2. Educate Caregivers & Teachers – Ensure they understand dietary restrictions.
3. Join Support Groups – Connecting with other families can provide emotional and practical help.
4. Stay Alert for Symptoms – Watch for signs of metabolic crisis (lethargy, vomiting, seizures).
5. Plan for Emergencies – Keep a medical alert card and emergency contact numbers handy.
How Apollo24|7 Can Help
If you suspect an IEM disorder or need expert guidance, Apollo24|7 offers:
Consultations with metabolic specialists
Newborn screening and genetic testing
Personalized diet and treatment plans
You can easily book a consultation or schedule a test through the Apollo24|7 app or website.
Conclusion
IEM disorders are challenging but manageable with early diagnosis and proper care. If you notice unusual symptoms in your child, seek medical advice promptly. With the right support, children with IEM can lead fulfilling lives.
Remember: Awareness and timely action make all the difference.
Would you like to speak to a specialist? Book a consultation today on Apollo24|7.
Consult a Specialist for Personalised Advice
Consult a Specialist for Personalised Advice
Dr. Swathi Reddy Perugu
General Physician/ Internal Medicine Specialist
7 Years • MBBS, MD (General Medicine)
Hyderabad
Health plus, Hyderabad
Dr. Chethan T L
General Physician/ Internal Medicine Specialist
5 Years • MBBS, MD, DNB (General Medicine)
Bengaluru
Apollo Medical Center, Marathahalli, Bengaluru
Dr. Ganesh Yadala
General Physician/ Internal Medicine Specialist
31 Years • MBBS, MD (Int. Med.)
Hyderabad
Apollo Hospitals Jubilee Hills, Hyderabad
(50+ Patients)
Dr. Shakti
General Physician/ Internal Medicine Specialist
25 Years • MBBS, DNB, PGDHIVM, MRCP (UK)
Delhi
Apollo Hospitals Indraprastha, Delhi
(250+ Patients)
Dr. Subashini Venkatesh
General Physician/ Internal Medicine Specialist
25 Years • MBBS., DCH, MRCGP, Dip (Dermatology), CCT
Chennai
Apollo Hospitals Heart Centre Thousand Lights, Chennai
(25+ Patients)
