Heparane sulfamidase deficiency
Overview
Heparane sulfamidase deficiency (medical condition): A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans). This occurs due to there being not enough of the enzyme called N-acetyl-alpha-glucosaminidase (B) which is needed to break down the mucopolysacharides. The mucopolysaccharides are then deposited in various tissues. Heparane sulfamidase deficiency: Another name for Mucopolysaccharidosis type 3 (or close medical condition association). Mucopolysaccharidosis type 3: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans). This occurs due to there being not enough of the enzyme called N-acetyl-alpha-glucosaminidase (B) which is needed to break down the mucopolysacharides. The mucopolysaccharides are then deposited in various tissues.
Symptoms
The list of signs and symptoms mentioned in various sources for Mucopolysaccharidosis type 3 includes the 21 symptoms listed below: * Accelerated growth during early childhood * Slow growth after 3 years * Mental deterioration * Speech deterioration * Behavioral deterioration * Hyperactivity * Gait deterioration * Dense calvarium * Coarse facial features * Monobrow * Variable enlarged liver and spleen * Irregular secondary tooth dentin * Ovoid dysplasia of vertebrae * Heart anomalies * Sunken nasal bridge * Loss of motor skills * Hirsuitism * Large head * Limited joint movements * Abundant scalp hair * Spastic diplegia
Causes
* Abundant scalp hair * Behavioral deterioration * Coarse facial features * Hirsuitism * Hyperactivity * Large head * Loss of motor skills * Mental deterioration
Diagnosis
The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Mucopolysaccharidosis type 3. This medical information about signs and symptoms for Mucopolysaccharidosis type 3 has been gathered from various sources, may not be fully accurate, and may not be the full list of Mucopolysaccharidosis type 3 signs or Mucopolysaccharidosis type 3 symptoms. Furthermore, signs and symptoms of Mucopolysaccharidosis type 3 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 Mucopolysaccharidosis type 3 symptoms.