which enzyme is deficient in phenylketonuria Solved phenylketonuria is an inherited disease that results

Phenylketonuria, commonly known as PKU, is a genetic metabolic disorder that can have serious consequences if left untreated. PKU patients are unable to properly metabolize the amino acid phenylalanine, which can accumulate and cause brain damage and other health problems. One of the causes of PKU is a deficiency in the enzyme dihydropteridine reductase, which is necessary for the proper breakdown of phenylalanine. The diagram in Figure 1 illustrates the biochemical pathway involved in phenylalanine metabolism, highlighting the role of dihydropteridine reductase in the process. Figure 1: Phenylketonurias; Dihydropteridine Reductase Deficiency Disease [image src=“http://www.virtualmedstudent.com/images/phenylketonuria_biochemistry_pathway.jpg” alt=“Phenylketonurias; Dihydropteridine Reductase Deficiency Disease”]

Understanding the Biochemical Pathway of Phenylalanine Metabolism

The metabolism of phenylalanine involves several steps, each of which is catalyzed by a different enzyme. The first step is the conversion of phenylalanine to tyrosine, which is catalyzed by the enzyme phenylalanine hydroxylase. This reaction also requires the cofactor tetrahydrobiopterin (BH4), which is regenerated from its oxidized form (BH2) by dihydropteridine reductase.

If dihydropteridine reductase is deficient, BH4 cannot be regenerated and the phenylalanine hydroxylase reaction slows down. This leads to an accumulation of phenylalanine and a deficiency of tyrosine, which can cause a range of health problems.

The genetic basis of PKU is illustrated in Figure 2, which shows how mutations in the phenylalanine hydroxylase gene can cause the enzyme to be non-functional or partially functional. In some cases, mutations in other genes involved in phenylalanine metabolism or BH4 synthesis can also result in PKU. Figure 2: Phenylketonuria (PKU) Genetics [image src=“https://libapps-au.s3-ap-southeast-2.amazonaws.com/accounts/12617/images/pku_genetics.PNG” alt=“Phenylketonuria (PKU) Genetics”] The Genetic Basis of PKU

PKU is an autosomal recessive disorder, which means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the disease. If an individual has only one copy of the mutated gene, they are considered a carrier of the disease but do not usually show symptoms.

The phenylalanine hydroxylase gene is located on chromosome 12 and contains 13 exons that encode the protein. Mutations in any of these exons can lead to a faulty protein that is either non-functional or partially functional.

Diagnosis of PKU typically involves a blood test to measure the levels of phenylalanine in the blood. Treatment usually involves a strict low-phenylalanine diet and, in some cases, supplementation with BH4 or tyrosine to address the underlying metabolic defect.

Conclusion

Phenylketonuria is a serious metabolic disorder that can lead to a range of health problems if left untreated. The disorder is caused by a deficiency in the enzyme dihydropteridine reductase, which is necessary for the proper metabolism of phenylalanine. Genetic mutations in the phenylalanine hydroxylase gene are a common cause of PKU, and diagnosis typically involves a blood test to measure phenylalanine levels. Treatment involves a strict low-phenylalanine diet and, in some cases, supplementation with BH4 or tyrosine to address the underlying metabolic defect.

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