phenylketonuria…

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phenylketonuria test, phenylketonuria test, pku, phenylketonuria, pku, rare hereditary condition, the amino acid phenylalanine is not properly metabolized, pku, cause severe mental retardation, not treated, phenylketonuria, pku, inherited, an autosomal recessive trait, parents must pass on the defective gene, the child to be affected, genetically-determined abnormality in phenylketonuria, missing enzyme, phenylalanine hydroxylase, phenylalanine is 1, the 8 essential amino acids found in protein-containing foods, in pku, phenylalanine cannot be used, normal fashion, the missing enzyme, subsequently, high levels of phenylalanine, 2 closely-related phenylalanine derivatives, build up, compounds, toxic, central nervous system, brain damage, brain causes, marked mental retardation by the end, the first year of life offending proteins, not scrupulously avoided, older children, develop movement disorders, athetosis, rocking, hyperactivity, pku, treatable disease, detected by a simple blood test, most states, require a screening test, all newborns, generally done, a heelstick shortly after birth, phenylalanine is involved indirectly, in the production of melanin, pigment responsible, skin, hair color, children, phenylketonuria often have lighter complexions than unaffected siblings, characteristic "mousy" odor that results, accumulation of phenylacetic acid, odor detected on the breath, skin, urine condition has not been treated immediately from birth, foods containing phenylalanine, consumed, skin rashes, eczema, microcephaly, tremors, jerking movements, the arms, legs, spasticity, unusual hand posturing, seizures, hyperactivity, delayed mental, social skills, mental retardation, a distinctive "mousy" odor, urine, sweat, light coloration, frequent finding of light complexion, blond hair, blue eyes, enzyme assay to detect the carrier state, parents, chorionic villus sample to detect fetal pku, prenatal diagnosis, pku screening, a heelstick blood sample, infant to screen, pku, mandatory in most states, treatment includes a diet that is extremely low in phenylalanine, the child is growing, strict compliance, diet is necessary, prevent, minimize mental retardation, close supervision by a registered dietitian, physician, cooperation, the parent, child, phenylalanine occurs in significant amounts in milk, eggs, common foods, nutrasweet, aspartame, contains phenylalanine, products containing aspartame, avoided by children, a special infant formula, lofenalac is made, infants, pku, used throughout life, a protein source that is extremely low in phenylalanine, balanced, the remaining essential amino acids, adult women, pku, who plan to, become pregnant should also adhere to a strict low-phenylalanine diet both, becoming pregnant, throughout the pregnancy, outcome is expected to be very good, dietary treatment is followed closely beginning shortly, child's birth, treatment is started after 3 years, disorder remains untreated, brain damage is inevitable, severe mental retardation occurs disorder is untreated, adhd, attention-deficit hyperactivity disorder, appears to be the most common problem seen in children, perhaps, adults, not adhere to a very low-phenylalanine diet, infant has not been tested, pku, particularly important, anyone in family has the disorder, genetic counseling, prospective parents, a family history of pku, carrier state, pku, detected by enzyme assays, pku, diagnosed prenatally, imperative that a woman, pku who becomes pregnant adheres closely, special low-phenylalanine diet, accumulation of phenylalanine, damage the unborn baby baby has not inherited the abnormality.