IEM (Inborn Errors of Metabolism) disorders in India

India has a relatively high birth rate of approximately 25 million babies born every year. India also has a high prevalence of consanguineous (marriages within the family, maternal or paternal side) marriage across the country which gives an indication to the possibility of high occurrence of IEM (Inborn errors of Metabolism). However there is very little research and report evidence to support this.

 

What is Inborn Errors of Metabolism?
MedlinePlus Encyclopedia defines Inborn errors of metabolism as rare genetic (inherited) disorders in which the body cannot properly turn food into energy. The disorders are usually caused by defects in specific proteins (enzymes) that help break down (metabolize) parts of food.

 

What are the most common disorders observed in India?
Congenital Hypothyroidism
Congenital Adrenal Hyperplasia (CAH)
Glucose 6 Phosphate Dehydrogenase Deficiency (G6PD)
Biotindase Deficiency
Galactosemia (GAL)
Phenylketonuria (PKU)
Maple Syrup Urine Disease (MSUD)

 

State wise common disorders

Studies over the years also point out to state wise trends in these disorders.

State Common Disorders
Karnataka Homocystinuria, Hyperglycinema, MSUD, PKU
AP & Telengana CH and CAH
North India Aminoacid Disorder
Mumbai Albinism, Alkaptonuria, Amino Acid Disorder
East India Wilson’s Disease
West India GM2 Gangliosidosis


How are these errors diagnosed?

 

Newborn screening tests are typically performed within 72 hours of birth for any disorders of diseases that might affect the baby’s normal functions. Metabolic disorders, blood diseases, genetic disorders,are detected early through these tests. The idea is to perform the tests and detect diseases if any at the earliest stage possible so that the necessary treatment can be provided at the very starting of the disease and it can be cured. Some of the metabolic disorders are fatal like CAH and Maple Syrup Urine Disease. It is also important to keep in mind here that the tests are just to check the symptoms and should not be considered as the final diagnosis. A confirmation of a disorder gives ample time of doctors to effectively treat the disease.

 

Genetic Disorder Symptoms Test

 

Congenital Hypothyroidism

 

Mental retardation, Poor Growth and Neurological Capabilities Thyroxine

 

Congenital Adrenal Hyperplasia

 

Ambiguity of genitalia, salt wasting diseases, Hyponatremia, Hypovolemia 17-Hydroxy Progesterone

 

Glucose 6 Phosphate Dehydrogenase deficiency

 

Anemia, Neonatal Jaundice, Hemolysis G6PD

 

Galactosemia

 

Liver failure, Sepsis, Mental retardation. If unchecked can lead to death Gal-1-P / Galactose

 

Phenylketonuria

 

Severe mental retardation, microcephaly, epilepsy Phenylalanine
Cystic Fibrosis

Chronic Obstructive Lung Disease with thick secretions and recurrent infections

Pancreatic insufficiency leading to digestive problems

Persistent coughing and poor weight gain

Immuno reactive Trypsinogen

 

Hemoglobinopathies – Thalassemia, Sickle Cell Anemia

 

Chronic Hemolytic Anemia Hemoglobin
Maple Syrup Urine Disease

Increased leucine levels lead to Mental Retardation

 

Difficulty in walking, speech, seizure and death

Leucine

 

Biotindase deficiency

 

Seizures, rash, hearing loss and developmental delay Biotindase

 

 

 

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