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PKU-affected women themselves are not at risk of additional complications during pregnancy. [citation needed] In most countries, women with PKU who wish to have children are advised to lower their blood Phe levels (typically to between 2 and 6 mg/dL) before they become pregnant, and carefully control their levels throughout the pregnancy.
Persons with genetic predisposition to PKU have normal mental development on this diet. Previously, it was thought safe to withdraw from the diet in the late teens or early twenties, after the central nervous system was fully developed; recent studies suggest some degree of relapse, and a continued phenylalanine-restricted diet is now recommended.
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.
To provide a basis for improving the understanding of the epidemiology, genotype/phenotype correlation and outcome of these diseases and their impact on the quality of life of patients, and for evaluating diagnostic and therapeutic strategies a patient registry was established by the noncommercial International Working Group on Neurotransmitter ...
A tip developed this past summer through forensic genetic genealogy finally came up with a name for the 17-year-old who was found dead in Highland P DNA testing, genetic investigations lead to ...
Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. [1] The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others . In most of the disorders, problems arise due to accumulation of substances which are ...
An advocacy group that has taken a position against research on newborn blood screening data without parental consent is the Citizens' Council for Health Freedom, who take the position that newborn health screening for "a specific set of newborn genetic conditions" is a very different matter than storing the data or those DNA samples ...
A genetic counsellor discussing a pedigree with a client. Genetic counseling is the process of investigating individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease.