Phenylketonuria

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1:18000 have the chance of having this genetic disorder A person has it when only both of the parents are carriers of the gene, but if only one parent has the gene for it then the child would only be a carrier themselves The body can t break down an amino acid called phenylalanine If a baby has it then the treatment needs to soon after birth, so that phenylalanine won t build up in the blood and brain Build ups can lead to intellectual disability and central nervous system problems Symptoms usually start a few months after birth and are: a musty odor to the skin, hair, and urine, skin problems/ skin rashes, losing weight from vomiting and diarrhea, acting fussy, being sensitive to light, excessive restlessness, delayed mental and social skills, head size significantly below normal size, jerking movements of the arms or legs, unusual positioning of the hands, lighter skin and hair and eyes than other family members without the disease, poor development of tooth enamel, If treatment isn t started early then the child might develop growth problems, developmental delays, seizures, and severe intellectual disability It s dignosed because all baby get tested for it a few days after birth, and the test may be repeated one or two weeks after birth The treatment is a lifelong reduced-protein diet To prevent it, parents need to control their phenylalanine levels, and to most likely go to genetic counseling Was discovered by Dr.Asbjorn Folling in 1934 Children's PKU Network 3790 Via De La Valle, Ste 120 Del Mar, CA 92014 800-377-6677 (toll-free) National PKU News 6869 Woodlawn Ave. NE #116 Seattle, WA 98115 (206) 525-8140