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12 Cards in this Set

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Useful Information from the week
"• Inherited diseases – patterns – autosomal recessive 30%, autosomal dominant 50%, X linked 10-20%, mitochondrial.
• PKU is a life-long disease. Treatment should be life-long, although can be less strict after adolescent and teenage years have passed, because most of the brain has formed by then and less change of neural damage occurring. Nevertheless, treatment should be life long. Long term outcomes are excellent if treatment is started early (within first 3 weeks) and maintained throughout life. Should expect to live a normal life with normal neurological function. Since dietary restriction has been enforced, >95% of patients have normal IQ.
"• genetic disorder – mutation in gene that codes for PAH. Autosomal recessive. The severity of the mutation determines the severity of the disease. A high proportion of subjects are heterozygotes, bearing different mutations on each chromosome, explaining the heterogeneity of the phenotype, and in turn the spectrum of severity of the disease.
"• World wide disorder
"• Blood Phe levels >400mol/L is indicative that treatment is necessary. (Normal <200mol/L) This is usually picked up by a Guthrie heel prick screening test done on all newborn babies in Australia.
• PKU is a genetic disorder. It is caused by deficient activity of the enzyme phenylalanine hydroxylase which is expressed only in the liver, and which catalyses the conversion of phenylalanine to tyrosine. The end result is an accumulation of Phe, which competes with tyrosine and other AA’s tryptophan for entry into the brain. The end result is that if left untreated, results in severe mental retardation.
Management - Initial Vs Long Term
"Initial Management.
Diagnostic Decision/Mechanism
• A genetic abnormality of phenylalanine homeostasis can result in pathological elevations of blood phenylalanine, which if persistently high could result in permanent neurodevelopmental impairment.
"• Check Phe levels (done by specialist) Level 1400mol/L (Normal <200mol/L)
"• Well looking and active infant.
"• Planned pregnancy, normal pregnancy. 39 weeks gestation.