Mention any two autosomal disorders with their symptoms.

Explanation

1) Sickle- cell anaemia: It is an autosomal recessive genetic disorder, characterised by rigid, sickel shaped red blood cells in hypoxia conditions.
Sickle cell anaemia is due to point mutation in the DNA that codes for `beta`-globin polypeptide chain of haemoglobin molecule, causing the replacement of the glutamic acid in the sixth position by valine.
Symptoms: THe sickled erythrocytes are fragile and their continuous breakdown leads to anaemia called sickle cell anaemia.
The sickled cell block the capillaries resulting in poor blood supply to tissue. This leads to physical weakness, pain, organ damage and even paralysis.
2. Phenylketonuria: It is an autosomal recessive metabolic genetic disorder caused by a mutation in a gene code for Phenylalaline hydroxylase, located in chromosome 12. The affected individual lacks the phenylalanine hydroxylase enzyme, that converts the aminoacid phenylalanine into tyrosine, results in accumulation of phenylalaline in tissues later it is converted to phenylpyruvate and their derivaties. All these metabolities are excreted in urine.
Symptoms: Accumulation of these substances in the brain causes mental retardation, failure to walk or talk, failure of growth etc.