N-acetyl-alpha-d-glucosaminidase deficiency

Introduction: N-acetyl-alpha-d-glucosaminidase deficiency

Description of N-acetyl-alpha-d-glucosaminidase deficiency

N-acetyl-alpha-d-glucosaminidase deficiency (medical condition): A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) due to deficiency of an enzyme called N-acetyl-alpha-D-glucosaminidase. Mucopolysaccharide levels build up and are then deposited in various tissues.

See also:

Sanfilippo syndrome type B:
  »Introduction: Sanfilippo syndrome type B
  »Symptoms of Sanfilippo syndrome type B

N-acetyl-alpha-d-glucosaminidase deficiency: Related Topics

These medical condition or symptom topics may be relevant to medical information for N-acetyl-alpha-d-glucosaminidase deficiency:

• Deficiency

N-acetyl-alpha-d-glucosaminidase deficiency: Rare Disease

Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

N-acetyl-alpha-d-glucosaminidase deficiency is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that N-acetyl-alpha-d-glucosaminidase deficiency, or a subtype of N-acetyl-alpha-d-glucosaminidase deficiency, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

N-acetyl-alpha-d-glucosaminidase deficiency as a Disease

N-acetyl-alpha-d-glucosaminidase deficiency: Another name for Sanfilippo syndrome type B (or close medical condition association).
  »Introduction: Sanfilippo syndrome type B
  »Symptoms of Sanfilippo syndrome type B

Symptoms of N-acetyl-alpha-d-glucosaminidase deficiency (Sanfilippo syndrome type B)

Some of the symptoms of N-acetyl-alpha-d-glucosaminidase deficiency incude:

• Hearing loss
• Delayed speech development
• Hyperactivity
• Severe mental retardation
• Aggressiveness

See full list of 12 symptoms of N-acetyl-alpha-d-glucosaminidase deficiency (Sanfilippo syndrome type B)

N-acetyl-alpha-d-glucosaminidase deficiency: Related Disease Topics

These medical disease topics may be related to N-acetyl-alpha-d-glucosaminidase deficiency:

• coarse facial features
• sleep disturbance
• dementia
• tremors
• hyperactivity
• temper tantrums
• joint stiffness
• progressive ataxia

Terms associated with N-acetyl-alpha-d-glucosaminidase deficiency:

Terms Similar to N-acetyl-alpha-d-glucosaminidase deficiency:

• NAGLU deficiency
• Sanfilippo syndrome B
• MPS III-B
• MPS3B
• Mucopolysaccharidosis type III-B

Source - NIH

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