Rare Diseases In Newborn Which are Difficult To Diagnose

A deficiency causes metabolic disorders in an enzyme that helps break down certain molecules for energy.

Sambhav Kumar
Written by: Sambhav KumarUpdated at: Mar 14, 2023 09:00 IST
Rare Diseases In Newborn Which are Difficult To Diagnose

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We encounter many diseases throughout our lives, but there are some diseases that remain underlying. The reason behind this is that some diseases are so rare that it occurs to one in some hundreds or thousands of people. As a result, their treatments are also limited, and the cost remains high. Rare diseases occur in newborns because of some genetic defect, hereditary condition or prevalence of infection in rare cases. In India, there are several rare diseases, but some affect more people than others. Today we will learn about some rare diseases that usually occur in newborns. 


According to Dr Arun Mehta, Consultant Haematologist in Ivory Hospital, Greater Noida, thalassemia is a kind of anaemia passed down through families. Thalassemia causes a decrease in the production of haemoglobin in the cells that carry oxygen. It interferes with the body's functioning and causes the loss of healthy red blood cells. Thalassemia sufferers have difficulty doing daily activities due to blood loss, which causes weariness. "Individuals with thalassemia typically have light yellowish skin, which might worsen if the patient is not treated,” said Dr Mehta. Thalassemia symptoms can lead to serious complications like bone deformities, fatigue, muscle weakness, dark urine, pale skin or yellowish skin, and hamper growth and development of the body.

Also read: Know 5 Types Of Rare Diseases That Are Common In India

Lysosomal Storage Disorder

Lysosomal storage disorders are caused by an inherited mutation in a gene responsible for the function of lysosomes, specialised organelles that break down and recycle cellular components. Symptoms may include decreased muscle tone, seizures, developmental delay, or an enlarged head or spleen. 

As per a report published by National Centre for Biotechnology Information, lysosomal storage disorders (LSDs) are inborn metabolic abnormalities characterised by the accumulation of excess substrates in the cells of diverse organs due to lysosomal dysfunction. This rare disease causes organ malfunction leading to significant morbidity and mortality.

Also read: Arun Bali Dies Of Myasthenia Gravis, Know Everything About The Rare Disease

Metabolic Disorders

A deficiency causes metabolic disorders in an enzyme that helps break down certain molecules for energy. Phenylketonuria or PKU is a genetic disorder that affects the metabolism of an amino acid called phenylalanine, which is found in certain protein-rich foods. Symptoms of PKU include seizures, developmental delay, and mental retardation.

Congenital Heart Defect

Congenital heart defects are structural abnormalities of the heart that are present at birth and can be caused by various genetic mutations. They can be mild or severe, leading to serious complications such as heart failure or stroke. 

As per the Centre for Disease Control and Prevention, the following are the symptoms of congenital heart defect

  • Blue-coloured lips or nails
  • Breathing that is too fast or too difficult
  • Feeding exhaustion
  • Sleepiness

Diagnosing and treatment of rare diseases in newborns can be challenging, as they often require specialised tests and treatments. Early diagnosis and intervention are essential for the best possible outcome, so being aware of any symptoms or signs of a rare disease is important.