A member asked:

What are the inborn errors of metabolism?

3 doctors weighed in across 3 answers

Many many: There are hundreds of these disorders and they are very complicated biochemical pathways-- all are related to how the body uses nutrients to create energy in cells. Talk to your doctor about a specific concern you have.

Answered 3/26/2013

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Dr. James Shoemaker answered

Specializes in General Practice

Mutated Enzymes: There are 2 main kinds of proteins in your body: structural proteins like collagen, elastin and dystrophin and enzyme proteins that assist in the chemical reactions that help turn the foods you eat into you. In the inborn errors of metabolism, the genes that code for these enzymes are mutated and the enzymes do not work right causing food ingredients to build up in the body to poisonous levels.

Answered 5/7/2016

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Dr. James Shoemaker answered

Specializes in General Practice

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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