Flashcards in Genetic diseases Deck (70)
A group of disease when there is an increase accumulation of the metabolite which would have otherwise degraded by the presence of normal levels of specific enzyme.
Lysosomal storage disease
Enzyme deficient in Gaucher's disease.
Metabolite that accumulates in Gaucher's disease.
Enzyme deficient in Tay-Sachs disease.
Metabolite that accumulates in Tay-sachs disease.
Enzyme deficient in niemman-pick
Metabolite that accumulates in niemman-pick disease.
Enzyme deficient in Fabry disease.
Metabolite that accumulates in Fabry disease.
What is the pathognomonic sign of Tay-sach?
Cherry red spotin retina
Patient with Tay-sach's disease usually lives until?
4 years old :(
Other name of Tay-sachs
A group of disease with deficient enzyme involved in either glycogen production or degradation in the liver.
Glycogen storage disease
Organ commonly affected by Glycogen storage disease
Disease deficient in Glucose-6-phosphatase
Type 1- Von Gierke's
Disease deficient in Acid maltase
Type II- Pompe's disease
Disease deficient in glycogen debrancher
Type III- Cori's disase
Disease deficient in glycogen branching enzyme
Type IV- Andersen's disease
Disease deficient in muscle glycogen phosphorylase
Type V- McArdle
Disease deficient in Liver glycogen phosphorylase
Type VI- Hers
Disease deficient in Muscle phosphofructokinase
Syndrome where there is abnormal production of uric acid due to recycling of purinesin the body.
Deficient enzyme in Lesch-nyhan syndrome
Hypoxanthine Guanine Phosphoribosyl Transferase (HGPRT)
Syndrome defective in FIBRILLIN type 1
Clinical manifestation of Marfan syndrome
Tall stature with deformed sternum
Joints that can hyperextend
Most common cardiovascular defect associated with marfan syndrome
Cystic medial necrosis of the aorta
Pectus excavatumis found in?
This disease has a defective collagen type 3 that affects the connective tissue
Complication in Ehler-Danlos syndrome
Rupture in major organs and vessels
Rupture of the eyeball
Rupture of membrane during pregnancy