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The discovery of phenylketonuria
Acta Paediatrica, 1994In 1934, two severely mentally retarded children were examined by Dr Asbjørn Følling. He proved, by classical organic chemistry, that they excreted phenylpyruvic acid in their urine. The substance was also found in the urine of eight additional mentally retarded patients.
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Pediatrics In Review, 1986
Phenylketonuria (PKU) has been aptly described as the "epitome of human biochemical genetics." In so distinguishing PKU among the many metabolic disorders now known, Scriver and Clow identified several categories in which this inborn error of metabolism is singularly prominent. First and foremost, PKU represents a fusion of effort between public health
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Phenylketonuria (PKU) has been aptly described as the "epitome of human biochemical genetics." In so distinguishing PKU among the many metabolic disorders now known, Scriver and Clow identified several categories in which this inborn error of metabolism is singularly prominent. First and foremost, PKU represents a fusion of effort between public health
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The American Journal of Medicine, 2004
Newborn screening for phenylketonuria began 35 to 40 years ago in most industrialized countries. Because of this initiative, which resulted in early institution of phenylalanine-restricted diets, there are now many young adults with this disease who have normal or near-normal intellectual function.
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Newborn screening for phenylketonuria began 35 to 40 years ago in most industrialized countries. Because of this initiative, which resulted in early institution of phenylalanine-restricted diets, there are now many young adults with this disease who have normal or near-normal intellectual function.
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Phenylketonuria and maternal phenylketonuria.
Breastfeeding review : professional publication of the Nursing Mothers' Association of Australia, 2001Phenylketonuria is a genetic disease affecting 1:10,000 to 14,000 live births. In NSW there is an average of nine cases diagnosed each year (Dietitians Working Party 1996). This paper discusses the management of phenylketonuria, and in particular the value of breastfeeding, complemented with a low phenylalanine infant formula, in facilitating easier ...
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Current Opinion in Pediatrics, 2002
Phenylketonuria is a flagship inborn error of metabolism and has been at the forefront of our growing understanding, diagnosis, and treatment of this family of disorders. In this article, the current understanding of its diagnosis, treatment, and complex molecular biology and physiology is reviewed.
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Phenylketonuria is a flagship inborn error of metabolism and has been at the forefront of our growing understanding, diagnosis, and treatment of this family of disorders. In this article, the current understanding of its diagnosis, treatment, and complex molecular biology and physiology is reviewed.
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Clinical Nutrition ESPEN
Phenylketonuria (PKU) is a genetic metabolic disease resulting from a deficiency in the enzyme phenylalanine hydroxylase. This defect prevents the conversion of phenylalanine to tyrosine, and as a result, the level of phenylalanine in the body increases abnormally.
Saeedeh Talebi, Peyman Eshraghi
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Phenylketonuria (PKU) is a genetic metabolic disease resulting from a deficiency in the enzyme phenylalanine hydroxylase. This defect prevents the conversion of phenylalanine to tyrosine, and as a result, the level of phenylalanine in the body increases abnormally.
Saeedeh Talebi, Peyman Eshraghi
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