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Phenylketonuria

Phenylketonuria (PKU) is a genetic disorder in which the body can't process part of a protein called phenylalanine (Phe). Phe is in almost all foods. If the Phe level gets too high, it can damage the brain and cause severe mental retardation. All babies born in U.S. hospitals must now have a screening test for PKU. This makes it easier to diagnose and treat the problem early.

The best treatment for PKU is a diet of low-protein foods. There are special formulas for newborns. For older children and adults, the diet includes many fruits and vegetables. It also includes some low-protein breads, pastas and cereals. Nutritional formulas provide the vitamins and minerals they can't get from their food.

Babies who get on this special diet soon after they are born develop normally. Many have no symptoms of PKU. It is important that they stay on the diet for the rest of their lives.

National Institute of Child Health and Human Development

Phenylketonuria on Wikipedia

'''Phenylketonuria''' (PKU) is a human genetic disorder that occurs in about 1 in 15,000 births, but the incidence varies widely in different human populations from 1 in 4,500 births among the Ireland to fewer than one in 100,000 births among the population of Finland.

History

Phenylketonuria was discovered by the Norwegian physician Ivar Asbjørn Følling, in 1934, when he noticed that hyperphenylalaninemia (HPA) was associated with mental retardation. In Norway this disorder is known as '''Følling's disease''', named after its discoverer. Dr. Følling was one of the first physicians to apply detailed chemical analysis to the study of disease. His careful analysis of the urine of two retarded siblings led him to request many physicians near Oslo to test the urine of other retarded patients. This led to the discovery of the same substance that he had found in 8 other patients. The substance found had to be subjected to much more basic and rudimentary chemical analysis than is available today. He tested and found that reactions gave rise to benzaldehyde and benzoic acid, which led him to conclude the compound contained a benzene ring. Further testing showed the melting point to be the same as phenylpyruvic acid which indicated that that was the substance in the urine. His careful science inspired many to pursue similar meticulous and painstaking research with other disorders.

Genetics

PKU usually is caused by a defective gene for the enzyme phenylalanine hydroxylase (PAH). It is inherited as an autosomal recessive trait. A rarer form of the disease occurs when PAH is normal but its Cofactor (biochemistry) tetrahydrobiopterin (BH4) is not synthesized by the patient. This enzyme normally converts the amino acid phenylalanine to tyrosine. If, due to a faulty or missing enzyme, this reaction does not take place, levels of phenylalanine in the body can be far higher ...   [ Read More ]

External Resources

PKULife.com - Software designed to benefit those managing the PKU (Phenylketonuria) diet.

BioMarin Pharmaceutical Inc. - Researches and develops therapies for debilitating, fatal, chronic genetic disorders causing enzyme deficiency of carbohydrate metabolism, such as phenylketonuria. Headquarters in Novato, California. (Nasdaq: BMRN).

Medline Plus: Phenylketonuria - Definition, causes, symptoms and treatment.

Phenylketonuria - Definition, causes, symptoms and treatments.

Pediatric Oncall - In-depth look at Phenylketonuria (PKU). Includes symptoms, diagnosing, newborn screening, treatment and follow up.

Tuxes for Tia - A fund raising event for PKU research on behalf of the Piziali Family Foundation for PKU. Learn about phenylketonuria.

Genes and Diseases: Phenylketonuria - Brief genetic information.

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