Phenylketonuria(pku)

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[object Object],[object Object],PHENYLALANINE HYDROXYLASE PHENYLALANINE Dietry sources, particularly plant proteins BODY PROTEINS BREAKDOWN TYROSINE © 2008 Paul Billiet ODWS (b) (a)

[object Object],[object Object],HYDROXYPHENYLACETIC ACID PHENYLACETIC ACID * *Agents, thought to be responsible for mental retardation © 2008 Paul Billiet ODWS (c) (c) PHENYLALANINE* Dietry sources, particularly plant proteins BODY PROTEINS (b) (a) PHENYLALANINE HYDROXYLASE

Test ,[object Object],© 2008 Paul Billiet ODWS

Treatment ,[object Object],[object Object],[object Object],[object Object],© 2008 Paul Billiet ODWS

Frequency ,[object Object],© 2008 Paul Billiet ODWS

Causes ,[object Object],[object Object],© 2008 Paul Billiet ODWS

Evolution ,[object Object],[object Object],[object Object],© 2008 Paul Billiet ODWS

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Phenylketonuria is one of fthe inborn error of metabolism. Its characteristically error in amino acid metabolism. This causes aminoaciduria. Phenylalanine is an amino acid requied for protein synthesis as well as synthesis of tyrosine. Deficiency of the enzyme phenylalanine hyydroxylase triggers the accumulation of phenylalanine in the blood and subsequent conversion and transamination to ohenylpyruvate which is a phenylketone. This causes accumulation of phenylketones in urine with characteristicc mousy smell. This slide discussess the causes and biochemistry of this error.

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Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. A birth defect that causes an amino acid called phenylalanine to build up in the body. Newborns should be screened for PKU. Untreated phenylketonuria can lead to brain damage, intellectual disabilities, behavioural symptoms or seizures. Treatment includes a strict diet with limited protein.

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Decarboxylation is the reaction by which CO2 is removed from the COOH group of an amino acid as a result an amine is formed. The reaction is catalyzed by the enzyme decarboxylase, which requires pyridoxal-P (B6-PO4) as coenzyme. Tissues like liver, kidney, brain possess the enzyme decarboxylase and also by microorganisms of intestinal tract. The enzyme removes CO2 from COOH and converts the amino acid to corresponding amine. Phenylalanine is an essential, aromatic amino acid. The need for phenylalanine becomes minimal, if adequate tyrosine is supplied in the food. This is called the sparing action of tyrosine on phenylalanine. Tyrosine is an aromatic amino acid. It is synthesized from phenylalanine, and so is a non-essential amino acid. The need for phenylalanine becomes minimal, if adequate tyrosine is supplied in the food. This is called the sparing action of tyrosine on the phenylalanine. Seven amino acids produce acetyl CoA or acetoacetate and therefore are categorized as ketogenic. Of these, isoleucine, threonine, and the aromatic amino acids (phenylalanine, tyrosine, and tryptophan) are converted to compounds that produce both glucose and acetyl CoA or acetoacetate. Leucine and lysine do not produce glucose; they produce acetyl CoA and acetoacetate. The name phenylketonuria is coined due to the fact that the metabolite phenylpyruvate is a keto acid (C6H5CH2−CO−COO−) excreted in urine in high amounts. Phenylalanine cannot be converted to tyrosine. So, phenylalanine accumulates. Phenylalanine level in blood is elevated.

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