Medical conditions that just affect a little portion of the population are referred to as unusual diseases. If it affects fewer than 1 in 2,000 people, an illness is deemed unusual by the World Health Organization (WHO). More than 7,000 rare illness have actually been recognized in India, where it is believed that 70 million people are afflicted. Some uncommon illness impact newborns. Let’s know more about unusual diseases in newborns.
Almost 74000 infants are born every day in India, of which approximately 74 are born with Inborn Errors of Metabolism (IEM). As a result, more than 27000 infants require expert nutrition and medical care each year. The problem of infant death is considerably increased by these aspects, although their individual frequency is reasonably low. The affected kids are at threat for mental retardation, epilepsy, and serious deficiencies that could even lead to death if the needed nutrition is not provided or if hold-ups are brought on by imports of special medical foods.Rare diseases in
babies in India
Following are the couple of unusual hereditary diseases in babies prevalent in India:1. Genetic adrenal hyperplasia
One in 10,000 to one in 20,000 infants are born with Congenital Adrenal Hyperplasia (CAH), an autosomal recessive condition. CAH is a collection of hereditary illness impacting the adrenal glands, a pair of walnut-sized organs above the kidneys. The body’s reaction to stress or disease is managed by the hormone cortisol, which is produced by the adrenal glands. The screening positive rate of this illness is 1 in 5762 out of 104,066 infants in the Indian population. The timeless type of CAH manifests as an adrenal crisis in both girls and kids or as genital ambiguity in newborn women (triggered by an excess of sex hormones and their derivatives).
Extreme liver illness like hepatosplenomegaly, cirrhosis, coagulopathy and abnormal liver function tests, kidney tubular injury, ascites, and brain injury are a few of
the typical complications of the disease. 3. Maple syrup urine illness (MSUD)An uncommon innate error of amino acid metabolic process and has autosomal recessive inheritance with a reported incidence of 1 in 1,85,000 babies. MSUD is triggered by a shortage of branched-chain alpha-ketoacid dehydrogenase complex. This results in the build-up of branch-chained amino acids in the blood causing, main nerve system (CNS) symptoms. Neurological symptoms typically consist of sleepiness, irritability, bad feeding, apnea, opisthotonus, and ‘bicycling’ movements. Given that neurological symptoms are frequently vague and subtle, these newborns are often neglected in the early neonatal duration and later on present with intensifying obtundation, coma, and breathing failure. This discussion is more common in low- and middle-income countries where neonatal direct blood spot screening for inborn metabolic errors is not extensively used.4.
Phenylketonuria
A hereditary condition called phenylketonuria (also described as PKU) triggers the blood to consist of more of the amino acid phenylalanine. An amino acid known as phenylalanine is a component of proteins and is consumed through food. In addition, some sweetening agents and all proteins contain it. If PKU is left without treatment, phenylalanine can build up in the body to harmful levels, leading to intellectual disability and other severe health concerns.
Other rare diseases that might likewise impact newborns
Other unusual neonatal genetic disorders observed in the Indian population are:
- Duchenne muscular dystrophy
- Spinal muscular atrophy
- Wilson’s Disease
- Cystic fibrosis
- Intellectual special needs
- Skeletal dysplasia
- Glycogen storage condition
- Krabbe Disease
- Fabry Disease
- Beta thalassemia characteristic
An illness is deemed uncommon by the World Health Organization (WHO) if it impacts less than 1 in 2,000 individuals. Some uncommon illness affect newborns. Following are the few uncommon genetic diseases in newborns widespread in India:1. Rare diseases in newborns that might impact your infant’s growth. Rare illness that might impact babies.