MPS 3 C
Overview
A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) due to deficiency of an enzyme called acetyl-CoA:alpha-glucosamide N-acetyltransferase. Mucopolysaccharide levels build up and are then deposited in various tissues.
Symptoms
* Coarse facial features * Wide-set eyes * Low set ears * Depressed nasal bridge * Coarse hair * Enlarged liver and spleen * Delayed motor development * Ovoid deformities of vertebral bodies * Mental deterioration * Behavioral disorders * Loss of motor skills
Diagnosis
The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of MPS 3 C. This medical information about signs and symptoms for MPS 3 C has been gathered from various sources, may not be fully accurate, and may not be the full list of MPS 3 C signs or MPS 3 C symptoms. Furthermore, signs and symptoms of MPS 3 C may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed MPS 3 C symptoms.