It was 50 years ago this month that the Journal of the American Medical Association published a letter from Robert Guthrie, UB professor of pediatrics and microbiology, reporting on a new test for ...
Newborn screening for PKU has allowed for early management of the condition, which serves to improve the prognosis in most cases. Research into PKU in adults has focused mostly on cognitive function; ...
Sassy Sister Vibes on MSN
Woman adopts child with the same rare metabolic disorder
Growing up with a rare genetic disorder, Pam Kowalczyk often felt like no one truly understood her daily struggles. Years ...
QUESTION: A friend of mine has a child who has a metabolic disorder that wasn’t diagnosed with routine newborn screening even though screening for the disorder does exist. How could that happen?
Newborn screening, which represents one of the major advances in child health of the past century, has been carried out in all fifty U.S. states since the 1970s. New-born screening programs are ...
When her newborn was diagnosed with Phenylketonuria (PKU), Jewelia Belcher tells PEOPLE it felt like her “world was crashing ...
Claire can only eat 15g of protein a day due to PKU, a rare condition that causes a 'toxic' build-up of phenylalanine in the body.
A MUM whose two kids have a rare disease which means eating could leave them with life-long brain damage is campaigning for ...
A special diet is the main treatment for phenylketonuria. Medications are also available. Treatment and monitoring is lifelong. Phenylketonuria (PKU) is an inherited condition where the amino acid ...
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