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Phenylketonuria is inherited in an autosomal recessive fashion. PKU is an autosomal recessive metabolic genetic disorder. As an autosomal recessive disorder, two PKU alleles are required for an individual to experience symptoms of the disease. For a child to inherit PKU, both parents must have and pass on the defective gene. [17]
Phenylketonuria (PKU)-like symptoms, including more pronounced developmental defects, skin irritation, and vomiting, may appear when phenylalanine levels are near 20 mg/dL (1200 mol/L). [1] Hyperphenylalaninemia is a recessive hereditary metabolic disorder that is caused by the body's failure to convert phenylalanine to tyrosine as a result of ...
The normal level of phenyl alanine in plasma is 1–2 mg/dl and in PKU, it normally ranges between 20–65 mg/dl. The main test for confirmation of PKU is the Guthrie test, which is a Bacillus subtilis Bioassay. [citation needed] Phenyl pyruvate in urine can also be detected using Ferric Chloride test. [citation needed]
If a suitably-prepared sample of blood or urine is applied to the seeded agar plate, the growth of the bacteria in the test will be a positive indicator for PKU in the patient. [ 4 ] To prepare the sample for application, a small amount of blood (from a heel puncture, for example) or urine (from a diaper, for example) is applied to a piece of ...
Newborn screening programs initially used screening criteria based largely on criteria established by JMG Wilson and F. Jungner in 1968. [6] Although not specifically about newborn population screening programs, their publication, Principles and practice of screening for disease proposed ten criteria that screening programs should meet before being used as a public health measure.
Untreated PKU results in irreversible neurological damage. [1] After the discovery of PKU as a cause of mental retardation, Horst Bickel and colleagues discovered that it could be treated successfully with a diet low in phenylalanine. [7] The main drawback in successful treatment of PKU was the delay in identifying affected individuals.
Reference ranges (reference intervals) for blood tests are sets of values used by a health professional to interpret a set of medical test results from blood samples. Reference ranges for blood tests are studied within the field of clinical chemistry (also known as "clinical biochemistry", "chemical pathology" or "pure blood chemistry"), the ...
A urine test strip is compared against a color chart to determine the results. Urine test strips or "dipsticks" allow for the rapid measurement of numerous urine parameters and substances. The strip is dipped into the urine sample and the color changes on the reagent pads are read after a defined period of time, either by eye or using an ...