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A member asked:
What are inborn errors of metabolism?
A doctor has provided 1 answer
PKU, Galactosemia: Phenylketonuria (pku) is one that is mentioned on soda containing aspartame. Galactosemia is tested for in every newborn in the us, but many others have recently been added to the panel including mcad, lcad and lchad deficiencies, maple syrup urine disease, biotinidase deficiency, methylmalonic and propionic acidemia. One not currently screened for is ornithine transcarbamylase (otc) deficiency.
Answered 12/10/2013
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