DISEASES WITH THEIR ENZYME DEFICIENCIES

Criggler-Najjar - UDP-glucuronyl transferase Von-Gierke’s - Glucose -6- phosphatase Pompe’s - Acid maltase( Acid α glucosidase) Mc Ardle’s -...

Important presentation about Thalassemia (Microcytic Anemia)

Definition: hereditary underproduction of either the alpha or beta globin chains of the hemoglobin A  resulting in a  microcytic anemia. Bet...

Cystic fibrosis

Most common lethal genetic disorder     Defect: mutation of the chloride channel protein, cystic fibrosis trans-membrane conductance regulat...

Genetic diseases

MUTATIONS Mutations involving nucleotides Point mutation Silent Misesnse Nonsense Frame shift mutation – deletions and insertions Trinucleo...

What is Down Syndrome?

What is Down Syndrome? Down syndrome (DS), also called Trisomy 21, is a condition in which extra genetic material causes delays in the way a...