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Name three pathologic conditions of defective/dysfunctional enzyme action. Define each condition.

2007-03-10 22:49:39 · 2 answers · asked by Alyx James 2 in Science & Mathematics Zoology

2 answers

Phenylketonuria (PKU) - In 'classic PKU', the enzyme that breaks down phenylalanine is completely or nearly completely deficient. This enzyme normally converts phenylalanine to another amino acid, tyrosine. Without this enzyme, phenylalanine and its' breakdown chemicals from other enzyme routes, accumulate in the blood and body tissues. Chronically high levels of phenylalanine and some of its breakdown products can cause significant brain problems.

Galactosemia (GALT) - Galactosemia is a hereditary disease that is caused by the lack of a liver enzyme required to digest galactose. Galactose is a breakdown product of lactose, which is most commonly found in milk products. Since galactose cannot be broken down, it builds up in the cells and becomes toxic. The body then produces abnormal chemicals, which causes the symptoms seen in infants with untreated galactosemia.

Morquio Syndrome - Two forms are recognized, type A and type B. Type A disease is characterized by the absence of the enzyme galactosamine-6-sulfatase, and the excretion of keratan sulfate in the urine. Type B disease results from deficiency of the enzyme beta galactosidase. It has several symptoms in common with other mucopolysaccharide storage diseases such as coarse facial features, short stature, and skeletal and joint abnormalities.

Sanfilippo Syndrome - characterized by the absence of one of several enzymes. Normally, these enzymes help rid the body of a substance found outside of our cells, called a mucopolysaccharide. Large amounts of a mucopolysaccharide called heparan sulfate are excreted in the urine. Affected individuals have coarse facial features, decreased mental development that progresses to severe mental retardation, stiff joints, gait disturbances, speech disturbances, and behavioral problems.

Hurler Syndrome (MPS1) - is an inherited and progressive disorder that results from the body's inability to make lysosomal alpha-L-iduronate, an enzyme that helps breakdown mucopolysaccharides. The enzyme deficiency found in Hurler syndrome causes mucopolysaccharides to build up in the body. The result is a multisystem disorder with symptoms that range from mild to severe. The disease damages many organs, including the heart.

2007-03-13 23:20:03 · answer #1 · answered by Anonymous · 1 0

In Tay-Sachs syndrome, a 100% fatal condition, chidren die before age six due to the body's failure to produce an enzyme that breaks down lipids that build up in the brain.
Lactose intolerance is caused by a lack of lactase to break down milk sugar (latose).

2007-03-11 00:28:51 · answer #2 · answered by bioguy 4 · 0 0

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