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Download Phenylketonuria, PKU, genetic test Germany, 7
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Copyright Freiburg Medical Laboratory Freiburg Medical Laboratory ME LLC, P.O.Box 3068, Dubai Tel: 04 396 2227 Fax: 04 396 2228 Phenylketonuria, PKU, genetic test Germany, 7-10 d Synonym: Hyperphenylalaninemia OMIM: 261600 Gene: PAH, Locus 12q22 to 12q24 General: Indication: Material: Method: Ref.- range: Phenylketonuria is an autosomal recessive metabolism disease. The frequency of phenylketonuria is between 1: 5,000 and 1:10,000. The gene encoding phenylalanine hydroxylase is located on chromosome 12q22 to 12q24. Due to complete enzyme deficiency in the liver, phenylalanine accumulates in blood and is eliminated via kidneys. Untreated children show severe mental deficiencies, epileptic attacks, hypertonia of the muscles, growth retardation of the brain, pigment disturbances of the skin, eczemalike skin symptoms, general over-excitability and characteristic urine and sweat smell. Positive newborn screening, hyperphenylalaninemia 5 ml EDTA blood PCR, sequencing of all 13 exons see report ^ non-accredited parameter updated January 2015 Freiburg Medical Laboratory ME LLC is accredited according to DIN EN ISO 15189.
