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Autosomal Recessive Genetic Disorder

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What is autosomal recessive disorder?
bio_gen_a19_7An autosomal recessive disorder occurs when two copies of the gene must be mutated for a person. Even though an affected person has unaffected parents they may carry a single copy of the mutated gene. These types of parents are called as carriers. With this type of parents 25% chance with each pregnancy of affected child.




Common Diseases
bio_gen_a19Sickle Cell Disease
•    Sickle cell disease is a blood disorder.
•    Also known as sickle cell anemia.
•    Inherited through autosomal recessive pattern.
•    Cause damage to organs like lungs, kidney, spleen and brain.
•    Reduced  life expectancy to 42 years for males and 48 years for females.







 
Tay - Sachs disease
•    An autosomal recessive genetic disorder
•    Destroys nerve cells in brain and the spinal cord.
•    Neurological and physical disabilities are common.
•    Present in infants of age of 3 to 6 months.
•    Symptoms are losing motor skills mental disability, vision and hearing loss, occurrence of seizures and paralysis.
•    No cure for the disease.

bio_gen_a19_1bio_gen_a19_3

  
Phenylketonuria(PKU)Phenylketonuria(PKU)
•    PKU is an autosomal recessive disorder
•    Causes deficiency in the enzyme phenylalanine hydroxylase
•    Excess phenylketone can affect the development of the brain.
•    Symptoms are mental retardation, seizures or brain damage.








GalactosemiaGalactosemia
•    Rare metabolic genetic disorder in human
•    Galactosemia impairs body's ability to break down galactose.
•    Symptoms are yellowing of skin, eyes, diarrhea, vomiting, and refusal to drink milk, malnourishment and also mental retardation.
•    If milk or milk products are given to infants suffering from galactosemia, then accumulation of galactose in their system damages brain, eyes, liver and kidneys.
 





bio_gen_a19_6Cystic Fibrosis

•    Cystic fibrosis is an inherited disease of the glands that secrete mucus and sweat.
•    Lungs, liver, pancreas, sinuses, intestines and sex organs will be affected.
•    Causes excess loss of salts through sweat
•    Symptoms are dehydration, tiredness, weakness and elevated heart rate.
•    No cure for cystic fibrosis.
 

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