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genetic disorder

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Q: What is the pathologic condition caused by an absent or defective gene?
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What is a pathological condition caused by absent or defective genes?

That is the definition of a genetic disorder.


What enzyme is absent or defective in tay sach's disease?

Tay-Sachs disease (TSD) is a fatal condition caused by a deficiency of the enzyme hexosaminidase A (Hex-A).


What word means having or caused by disease?

Pathologic


What condition is caused by defective valves in the lower leg veins?

This is called Chronic Venous Insufficiency.


What term describes the pathologic changes caused by a lack of oxygen in airthat is breathed in?

anoxia


What is cylinder Misfire?

A cylinder misfire is condition where one or more of the cylinders is not burning the fuel at the proper time it should. It can be caused by a defective spark plug or plug wire. It can also be caused by a defective fuel injector, blown head gasket, or in rare cases a burnt valve.


Is Hemophilia mutated allele that produces a defective form of the protein hemoglobin?

False; Hemophilia is caused by a mutated allele that produces a defective form of the protein fibrin.Sickle Cell Disease is caused by a defective form of hemoglobin.


What is glucose-6-phosphate dehydrogenase deficiency?

G6PD deficiency is caused by one copy of a defective G6PD gene in males or two copies of a defective G6PD gene in females. Hemolytic anemic attacks can be caused by oxidants, infection, and or by eating fava beans.


What are the mucopolysaccharidoses disorders caused by?

The MPS disorders are caused by absent or insufficient production of proteins known as lysosomal enzymes The specific enzyme that is deficient or absent distinguishes one type of MPS from another


What is the medical term meaning fractures of bones caused by osteosarcoma?

A fracture of bones related to cancer or tumor in the bone is called a pathologic fracture.


What is an engine misfire?

It is a condition when one or more cylinders on an engine does not fire properly and completely burn the fuel/air mixture. It can be caused by a defective spark plug, bad plug wire, defective fuel injector, burnt valve, cracked piston, blown head gasket, or cracked head.


What enzyme deficiency causes disease?

Tay-Sachs disease (TSD) is a fatal condition caused by a deficiency of the enzyme hexosaminidase A (Hex-A).