My daughter's doctor has ordered metabolic testing, what is this, and what could she have?

Question

She is delayed in speach, has some sensory intergration problems and may have a mild cognative delay as well as behavior problems. We thought it may be a autism spectrum disorder. She is 2 1/2.

Answer 1

Unfortunately, not all metabolic disorders are tested on newborns. Just the most common ones - like PKU disease. You probably remember the heel stick she had when she was a newborn? It is to detect a metabolic disorder. These are diseases that are congenital - and usually are caused by a defective ability to produce an enzyme that breaks down proteins correctly. Then the protein builds up and causes brain damage. They are also referred to as inborn errors of metabolism - see the following excerpt from Wikipedia:

Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products). In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or to the effects of reduced ability to synthesize essential compounds. Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic diseases, and these terms are considered synonymous.

The term inborn error of metabolism was coined by a British physician, Archibald Garrod (1857-1936), in the early 20th century. He is known for the "one gene, one enzyme" hypothesis, which arose from his studies on the nature and inheritance of alkaptonuria. His seminal text, Inborn Errors of Metabolism was published in 1923.

Answer 2

Metabolic testing is used to diagnose abnormalities associated with enzymes, proteins, lipids (fats) in the body. Several disorders like PKU (phenylketonuria is a genetic disorder that is caused by accumulation of a
protein known as phenylalanine (in most protein foods-milke, eggs, and so on) in the body that can cause mental retardation if not treated.

The pediatrician wants to check for these types of disorders to determine what she might have.

Answer 3

You need to ask your Doctor more about it, get all of the facts
You can not know for sure. until the test is done.
http://www.Webmd.com
that site can help you out!