Inherited metabolic diseases such as PKU impair metabolic pathways. What would occur if a metabolic disease impaired lipysis ?
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Step 1: Define lipolysis Lipolysis is the breakdown of fats (lipids) stored in adipose tissue into smaller molecules, such as fatty acids and glycerol, which can be used as energy sources by the body. Show more…
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Phenylketonuria (PKU) is an inherited disorder that is identified as an inborn error of metabolism. It is easily detectable during the first days of life through newborn screening tests. A drop of the infant's blood can determine the presence of the enzyme that is responsible for processing the essential amino acid phenylalanine. With normal enzyme activity, phenylalanine is converted to another amino acid (tyrosine), which is then utilized by the body to produce melanin (pigmentation in hair, skin, eyes), thyroid and other hormones. However, when the phenylalanine hydroxylase enzyme is absent or deficient, phenylalanine abnormally accumulates in the blood. A high level of phenylalanine is toxic to brain tissue and the result is severe brain damage and mental retardation. 1) Based on what you know about the action of enzymes in general, explain how the absence of the phenylalanine hydroxylase enzyme is disruptive to metabolism. 2) Why are people who have PKU generally very light in their coloration? 3) There is not a cure for this disorder, but adjustments can be made in an individual's lifestyle that leads to a healthier life. What do you think those adjustments might be?
Kaela P.
Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of phenylalanine in the blood. If PKU is not treated, phenylalanine can build up to harmful levels in the body, causing intellectual disability and other serious health problems. The phenylalanine degradation pathway and associated pathology of phenylketonuria are provided above. Phenylketonuria can arise from an inability to convert phenylalanine to tyrosine, which is due to the absence of functional phenylalanine hydroxylase (classical subtype) or functional enzymes for the recycling of tetrahydrobiopterin (new variant subtype) utilized in the first step of the metabolic pathway. Why do you think phenylketonuria resulting from dihydropteridine reductase deficiency is a more serious disorder than PKU resulting from phenylalanine hydroxylase deficiency? Explain your reasoning.
Bryan V.
Enzyme deficiencies: Given that the glyceroneogenesis pathway and gluconeogenesis pathway share the same enzymes, why cant adipose cells generate glucose for the body?
Adi S.
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