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A 38-year-old member asked:

what are the inborn errors of metabolism?

4 doctor answers4 doctors weighed in
Dr. Robin Larabee
Pediatrics 26 years experience
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.
Dr. James Shoemaker
General Practice 40 years experience
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.
Dr. Videh Mahajan
Internal Medicine 25 years experience
Metabolism: Gauchers disease.
Dr. James Shoemaker
General Practice 40 years experience
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.

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Similar questions

A 47-year-old member asked:

Is moyamoya a congenital disease?

2 doctor answers6 doctors weighed in
Dr. Ankush Bansal
Internal Medicine 17 years experience
Yes and no: In moyamoya, the inner layer (intima) of the internal carotid artery (ica) overgrows causing blockage of the lumen (opening) of the artery. The icas are two of the 4 major arteries supplying all of the brain. Collaterals form & look like smoke (moyamoya in japanese) on x-ray. Moyamoya can be congenital or acquired. There is also a possible hereditary component on chromosome 17.
A 41-year-old member asked:

What is treatment for inborn errors of metabolism?

3 doctor answers7 doctors weighed in
Dr. David Miller
Dr. David Miller answered
Family Medicine 10 years experience
Depends: The list of diseases caused by an inborn error of metabolism is very long, indeed. Typically, the disease is caused by an enzyme deficiency. The treatment (assuming one exists) often centers around replacing this enzyme in some way. Otherwise you are left with just treating the symptoms to improve quality of life.
A 42-year-old member asked:

Is downs syndrome an inborn error of metabolism?

3 doctor answers5 doctors weighed in
Dr. Gurmukh Singh
Pathology 49 years experience
Extrachromosome: Down syndrome is due to one extra copy of chromosome number 21, trisomy 21. It is not due to a single gene defect affecting metabolism of one entity.
A 47-year-old member asked:

Can you tell me inborn error of metabolism in detail?

1 doctor answer3 doctors weighed in
Dr. James Ferguson
Pediatrics 46 years experience
Broad category: The body has thousands of biochemical reactions that manage the conversion of proteins, fats, carbohydrates and enzymes.Each reaction is part of the sequence of life.Missing reactions can lead to storage of material at the bottleneck reaction point.Reactions require specific co-factors and or enzymes, and an error in the genetic details on how to make the enzyme can lead to disease.
A 35-year-old member asked:

Inborn error of metabolism--zellweger syndrome, how to treat?

2 doctor answers3 doctors weighed in
Dr. Ellen Altenburg
Pediatrics 31 years experience
No: Unfortunately there is no treatment and children usually die within the first year of life. There are currently ongoing investigation of possible treatments.

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Last updated May 7, 2016
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