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What is lactose intolerance and which enzyme deficiency causes it?
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Lactose intolerance is a common condition caused by a deficiency in the enzyme lactase, which is needed to digest lactose, a sugar found in milk and dairy products.
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What enzyme deficiency leads to phenylketonuria (PKU)?
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PKU is caused by a deficiency in phenylalanine hydroxylase, an enzyme necessary to convert phenylalanine to tyrosine.
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Which enzyme deficiency results in Tay-Sachs disease?
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Tay-Sachs disease is caused by a deficiency in the enzyme Hexosaminidase A.
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What condition is caused by a deficiency of the enzyme glucose-6-phosphate dehydrogenase?
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A deficiency in glucose-6-phosphate dehydrogenase leads to a condition called G6PD deficiency, which can result in hemolytic anemia.
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What enzyme is lacking in galactosemia and what are its effects?
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Galactosemia is caused by a deficiency in the enzyme galactose-1-phosphate uridylyltransferase.
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How is Niemann-Pick disease related to enzyme deficiency?
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Niemann-Pick disease is caused by a deficiency in the enzyme sphingomyelinase.
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Which enzyme deficiency is responsible for Hurler syndrome?
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Hurler syndrome is caused by a deficiency in the enzyme alpha-L-iduronidase.
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What role does ADA deficiency play in causing severe combined immunodeficiency (SCID)?
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ADA deficiency leads to SCID by preventing the breakdown of toxic substances, destroying lymphocytes and causing severe immune deficiency.
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Which enzyme deficiency is linked to Fabry disease?
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Fabry disease is caused by a deficiency in the enzyme alpha-galactosidase A.
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What condition arises from a deficiency of the enzyme acid alpha-glucosidase?
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Acid alpha-glucosidase deficiency causes Pompe disease, characterized by muscle weakness and respiratory issues.
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How does a deficiency in the enzyme ornithine transcarbamylase affect the body?
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Ornithine transcarbamylase deficiency leads to high ammonia levels, causing symptoms like lethargy, vomiting, and in severe cases, brain damage or coma.
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What genetic condition is linked with severe enzyme deficiency causing lower functioning lysosomes?
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Mucopolysaccharidosis type I (Hurler syndrome) involves a severe enzyme deficiency, specifically alpha-L-iduronidase, leading to dysfunctional lysosomes.
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Which enzyme deficiency is found in individuals with Gaucher's disease?
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Gaucher's disease is caused by a deficiency of the enzyme glucocerebrosidase.
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What enzyme is deficient in Lesch-Nyhan syndrome and what effects does it have?
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Lesch-Nyhan syndrome is due to a deficiency in hypoxanthine-guanine phosphoribosyltransferase (HPRT) enzyme, leading to severe neurological and behavioral issues.
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How does enzyme deficiency lead to congenital adrenal hyperplasia?
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Congenital adrenal hyperplasia is often due to a deficiency in the enzyme 21-hydroxylase, affecting cortisol production and causing inadequate stress response.
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