Diagnostic testing includes sweat chloride testing, probing for CFTR and a fecal test to test for presence of pancreatic enzymes. 1 in 22 is a carrier of this disorder. This disorder is inherited as an autosomal recessive disorder. Therapy is to discontinue cane sugar from the diet. This disease is inherited autosomal recessive.
Diagnostic testing is to detect homocystinuria and cyanocobalamin levels.
The urine smells like maple syrup or burned sugar. BCAA's need to be monitored regularly. PKU is inherited as an autosomal recessive disorder. Classic PKU is caused by a deficiency in phenylalanine hydroxylase. Blood tests are now mandated within 2-3 days after a child is born.