3. Congenital Diseases

Congenital Diseases

A number of diseases of man are acquired at birth. Such diseases are passed on from one generation to another in some members (congenital defects). Sir Archibald Garrod was bold enough to say that such inherited disorders are due to defective metabolism. However we now know that not all inherited disorders are due to detective metabolism.

Table : Inherited diseases, their causes and effects

Disease

Cause

Effect

Down’s syndrome

Abnormal chromosome number

Mental retardation

Haemophilia

Bleeding

Defective blood cloting mechanism

Sickle cell anaemia

Change in the shape of RBC

i.e. to sickle shape

Anaemia

Thalasemia

Abnormal haemoglobin

Anaemia

Phenylketonuria (PKU)

Defective conversion of

phenylalanine to tyrosine

Mental retardation

Albinism

Conversion of tyrosine to

Dopa is defective

Milk white skin, gray eyes

light sensitive

Gout

Abnormal production of uric acid

Arthritis

Gaucher’s disease

Cerebrosides accumulation

Enlarged spleen, enlarged liver, neurological

manifestations

Talactosemia

Imparied metabolism of gatactose

Cataracts,mental retardation, enlarged liver

Glycogen storage

Defect in glycogen breakdown

Heart diseases, muscle weakness, mental retardation

Attribution: "Science and Technology" by Dr.B.R.Ambedkar Open University 
Unit : 05  ,    Page No: 55 - 71