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