Types of Diseases: Book Source: Sciecnec and technology , Dr BRAOU
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