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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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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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Amino acid metabolism disorders are hereditary metabolic disorders. Hereditary disorders occur when parents pass the defective genes that cause these disorders on to their children. Amino acids are the building blocks of proteins and have many functions in the body. Hereditary disorders of amino acid processing (metabolism) can result from defects either in the breakdown of amino acids or in the body’s ability to get amino acids into cells.
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MSUD is metabolic genetic error . It happens due to lack of an enzyem that degrades specific amino acids Homocystinuria is also a metbolic genetic error due to an enzyme defficiency it leads to an accumulation of homocystein and related chemical in the blood
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a condition of faulty metabolism of tyrosine marked by the excretion of unusual amounts of tyrosine in the urine.
Tyrosinosis
Tyrosinosis
Marudhar Kesari Jain College for Women Vaniyambadi - 635 751, Tamil Nadu, INDIA.
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Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. The condition gets its name from the distinctive sweet odor of affected infants' urine.
Maple syrup urine disease (msud)
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Marudhar Kesari Jain College for Women Vaniyambadi - 635 751, Tamil Nadu, INDIA.
Alkaptonuria is a rare genetic metabolic disorder characterized by the accumulation of homogentisic acid in the body. Affected individuals lack enough functional levels of an enzyme required to breakdown homogentisic acid. Affected individuals may have dark urine or urine that turns black when exposed to air.
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Amino acid metabolism disorders are hereditary metabolic disorders. Hereditary disorders occur when parents pass the defective genes that cause these disorders on to their children. Amino acids are the building blocks of proteins and have many functions in the body. Hereditary disorders of amino acid processing (metabolism) can result from defects either in the breakdown of amino acids or in the body’s ability to get amino acids into cells.
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EvelinJoseph4
MSUD is metabolic genetic error . It happens due to lack of an enzyem that degrades specific amino acids Homocystinuria is also a metbolic genetic error due to an enzyme defficiency it leads to an accumulation of homocystein and related chemical in the blood
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Phenylketonuria (PKU)
Phenylketonuria (PKU)
Prof.Louay Labban
Protein which are major component of our diet have amino acid as their precursor and also act as important energy source. Any imbalance in the metabolism of these amino acid cause disorders
Disorders of amino acid metabolism
Disorders of amino acid metabolism
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Various Inborn errors of aminoacid metabolism and their clinical approach
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All India Institute of Medical Sciences, Mangalagiri
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Overview of Inborn errors of metabolism
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phenylketonuria aminoacid metabolism biochemistry paediatrics symptoms management urea cycle
Inborn errors of metabolism revision notes
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TONY SCARIA
Inborn errors of metabolism Definition:- Inborn errors of metabolism occur from a group of rare genetic disorders in which the body cannot metabolize food components normally. These disorders are usually caused by defects in the enzymes involved in the biochemical pathways that break down food components.
Inborn errors of protein metabolism
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Galactosemia
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Tyrosinemia2
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University of Kalamoon
Nutrition department Dr. Louay Labban
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