Be aware of these rare diseases in newborns that can affect your baby.

Medical conditions that affect only a minority of the population are called rare diseases. The disease is considered rare by the World Health Organization (WHO) if it affects less than 1 in 2,000 people. More than 7,000 rare diseases have been identified in India, where it is estimated that 70 million people are affected. effects on newborns as well. Let’s get to know rare diseases in newborns better.

Nearly 74,000 babies are born every day in India, of which about 74 are born with Inborn Errors of Metabolism (IEM). As a result, more than 27,000 babies need nutrition and expert medical care each year. The burden of infant mortality is greatly increased by these factors. Although the frequency of each is relatively low. Affected children are at risk of aphasia, epilepsy and serious birth defects that can result in death if they do not get essential nutrition. or if there is a delay in importing special medical food

Rare disease in newborns in India

The following are some of the rare genetic diseases in newborns prevalent in India:

1. congenital adrenal gland enlargement

One in 10,000 to 1 in 20,000 babies is born with Congenital Adrenal Hyperplasia (CAH), an autosomal recessive condition. CAH is a group of genetic diseases that affect the adrenal glands. These are a pair of walnut-sized organs above the kidneys. The body’s reaction to stress or illness is controlled by the hormone cortisol. produced by the adrenal glands The positive screening rate of this disease is 1 in 5762 out of 104,066 babies in the Indian population. The classic form of CAH manifests itself as an adrenal crisis in both boys and girls. or genital ambiguity in a newborn female. (caused by excess sex hormones and derivatives)

Rare disease in newborns
A rare disease in newborns that can affect the growth of the baby. Image Courtesy: Adobe Stock

2. Galactosemia

Disorders of galactose metabolism are caused by a deficiency in the enzyme galactose-1- GALT, short for phosphate uridyltransferase. Most affected infants show severe symptoms such as vomiting, diarrhea and hypoglycaemia. Babies with this condition may develop jaundice and cataracts within a few weeks. severe liver disease, such as Hepatosplenomegaly, cirrhosis, coagulopathy and abnormal liver function tests, ureteral injury, ascites and brain injury are common complications of the disease.

3. Maple Syrup Urine Disease (MSUD)

A rare congenital error in amino acid metabolism. and has autosomal recessive inheritance It has a reported incidence of 1 in 1,85,000 babies. MSUD is caused by an enzyme deficiency. alpha-ketoacid dehydrogenase with branches This leads to an accumulation of branched-chain amino acids in the blood, causing central nervous system (CNS) symptoms. Typical neurological symptoms include lethargy, irritability, poor appetite, respiratory arrest, opisthotonus, and locomotion. ‘Cycling’ as neurological symptoms are often vague and subtle. These newborns are therefore often overlooked during the first neonatal period. Later, nasal congestion worsened, coma, and respiratory failure. This presentation is more prevalent in low- and middle-income countries. Direct blood spot screening of newborns for congenital metabolic errors is not widely used.

4. Phenylketonuria

A genetic condition called phenylketonuria (PKU) causes the blood to contain more of the amino acid phenylalanine. An amino acid called phenylalanine is the building block of protein and is absorbed through the diet. There are also artificial sweeteners and whole proteins if PKU is not treated. Phenylalanine can accumulate in the body to dangerous levels. This leads to intellectual disability and other serious health problems.

rare disease in infants
A rare disease that can affect a newborn baby. Image Courtesy: Shutterstock

PKU can range from mild to severe signs and symptoms. Classic PKU is the name given to the most severe form of the disorder. Before they’re a few months old, babies with classic PKU seem normal. These children will become mentally handicapped if left untreated. Common symptoms of the condition include seizures, developmental delays. behavior problems and psychiatric diseases A side effect of having too much phenylalanine in the body in untreated people can be a musty or rodent-like odor. Children with classic PKU are more likely to have eczema and skin and hair. Color is lighter than unaffected family members.

Other Rare Diseases That Can Affect Newborns

Other rare genetic neonatal disorders seen in the Indian population include:

  • Duchenne Muscular Dystrophy
  • atrophy of the spinal muscles
  • Wilson’s disease
  • cystic fibrosis
  • intellectual disability
  • skeletal dysplasia
  • abnormalities in glycogen storage
  • basil disease
  • Fabry disease
  • Characteristics of beta thalassemia

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