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Wednesday, June 29, 2022

What Are Inborn Errors Of Metabolism [IEM]?

A true prevalence of IEM is not yet known in our country. Studies have shown that the prevalence is 1 in 2497 newborn babies. 


May 23, 2022 11:20:53 am
Inborn Errors of Metabolism [IEM]

Inborn errors of metabolism are very rare inherited [genetic] disorders where our body cannot convert food into energy. This occurs due to the complete or partial absence of an enzyme or its cofactor that helps turn food into energy.

How common is IEM?

A true prevalence of IEM is not yet known in our country. Studies have shown that the prevalence is 1 in 2497 newborn babies.  Our data has shown that IEMs account for 2 % of the hospital admissions and with the advent of advanced diagnostic modalities, the prevalence may still be even higher.

What causes IEM?

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Most of the IEMs are inherited in an autosomal recessive pattern. That means defective gene from the parents when it passes on the children they manifest IEMs.

What is the age group that is affected by IEMs?

IEMs can occur at any age group right  from the womb to the tomb[ fetuses, newborn babies, infants, young & older children, and even in adults]

What are the manifestations of IEM in our body?

IEMs can  affect any part of our body and the symptoms are developmental delay, seizures, vomiting, not gaining weight appropriate for age,  weakness of muscles,  abdomen distension, abnormal body odours etc.

Can you name some IEMs?

IEMS are classified based on the type of metabolism involved example: aminoacid disorders, fatty acid disorders, disorders of carbohydrate metabolism etc.

Are there any tests to diagnose IEMs?

Definitely yes. These tests are specialized tests and are done only in select hospitals and laboratories. They include plasma ammonia, venous lactate, pyruvate, plasma amino acids and acylcarnitine, urine for ketones and organic acids and finally genetic testing.

Can we diagnose IEMs I  newborn babies?

Select IEMs can be diagnosed in newborn babies by doing a newborn screening test on day 3 or 4 of life, where few drops of blood is collected from the baby’s heel, placed in a filter paper and is tested. The major advantage is that we can diagnose IEMs even before the babies start developing symptoms and we can treat it.

Is there any specific treatment for IEMs?

The answer is  fairly yes.

Some IEMs like amino acid disorders, urea cycle disorders, organic acidemias, and carbohydrate disorders can be treated with an appropriate diet and special formulas. Some IEMs can be treated with bone marrow and liver transparent. Some IEMs can be treated by replacing the absent or deficient enzymeand is known as enzyme replacement therapy. In addition, supportive therapies like physiotherapy and occupation therapy are recommended in a select group of patients.

Can we prevent IEMs?

Yes. As IEMs are inherited, Prenatal diagnosis is widely available nowadays. Parents who have children affected with IEMs or having children affected with IEMs in their family can opt for genetic counselling and testing. By performing amniocentesis and or chorionic villi sampling in their early trimester for expectant mothers and sending it for genetic testing we can diagnose whether the fetus ins affected with IEM or not.

Dr. Ganesh R. DNB(Peds) MNAMS, MRCPCH(UK), PhD (Ped Endocrinology), Sr.Consultant – General Pediatrics & Pediatric Metabolic Disorders, Rainbow Children’s Hospital, Chennai

Dr. Ganesh R.

MBBS, DNB (Pediatrics) MNAMS, MRCPCH(UK), PhD (Ped Endocrinology), Sr.Consultant – General Pediatrics & Pediatric Metabolic Disorders

Rainbow Children’s Hospital, Chennai

24×7 Pediatric Emergency Contact Number – 044-4860 0000

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