metabolic disorder?

Question

My almost 2 year old and a MRI when he was a year old because his doc said he had a large head, well the MRI came back abnormal and that they believe he has a metabolic disorder such as muccopolysacidoses , we went down to U of M hospital and they told me that he doesnt have hunter or hurler syndrome and the later tested him for gargole syndrome , and that came back negative. I still want to know what metabolic disorder he has. He crawled when he was 11 months old pulled himself when he was 12 months old and walked when he was 15 months old. He's going to be 2 in april and other than the delays he is a normal boy can anyone help me understand the disorder

Answer 1

I'm sorry, but the best I can do is refer you to this website. I hope it helps.
http://www.ninds.nih.gov/disorders/mucopolysaccharidoses/detail_mucopolysaccharidoses.htm
Possibly get another opinion. Sorry, I couldn't be more helpful. Take care.

Answer 2

Metabolic disorder
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A metabolic disorder is a medical disorder which affects the production of energy within individual human (or animal) cells. Most metabolic disorders are genetic, though a few are "acquired" as a result of diet, toxins, infections, etc. Genetic metabolic disorders are also known as inborn errors of metabolism.

In general, the genetic metabolic disorders are caused by genetic defects that result in missing or improperly constructed enzymes necessary for some step in the metabolic process of the cell.

The three largest classes of metabolic disorders are:

Glycogen storage diseases -- disorders affecting carbohydrate metabolism
Fatty oxidation disorders -- disorders affecting the metabolism of fat components
Mitochondrial disorders -- disorders affecting the mitochondria which are the central "powerhouses" of the cells.
A fourth class, the channelopathies (some of which cause periodic paralysis and/or malignant hyperthermia) could be considered to be metabolic disorders as well, though they are not always classified as such. These disorders affect the ion channels in the cell and organelle membranes, resulting in improper or inefficient transfer of ions through the membranes.

There are also a number of other metabolic disorders (such as myoadenylate deaminase deficiency) which do not cleanly fit into any of the above classifications.