mucopolysaccharidosis III

mucopolysaccharidosis III

An autosomal recessive condition caused by a mutation of NAGLU on chromosome 17q21 that encodes alpha-N-acetyl-glucosaminidase, which degrades heparan sulfate by hydrolysing terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Loss of the enzyme causes mucopolysaccharidosis type IIIB (Sanfilippo syndrome B), which is characterised by the lysosomal accumulation and increased excretion of heparan sulfate in urine.
 
Clinical findings
Relatively late onset, coarse facies, slow mental development progressing to severe mental retardation, stiff joints, gait disturbances, speech defects, behavioural problems, survival into the twenties or later.

Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

mucopolysaccharidosis III

Sanfilippo syndrome An AR condition characterized by α-N-acetyl-a-D-glucosaminidase deficiency, ↑ heparan sulfate excretion in urine Clinical Relatively late onset, coarse facies, slow mental development progressing to severe mental retardation, stiff joints, gait disturbances, speech defects, behavioral problems, survival into the twenties or later

McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

mucopolysaccharidosis III

Mucopolysaccharidosis that has been further differentiated into Sanfilippo A, B, C, or D, on the basis of the specific enzyme deficiency present in each form. Clinically, it may not be possible to distinguish the types. Present are moderate coarse facies, severe mental retardation, and mild hepatosplenomegaly. Corneal clouding is absent and growth is normal. Synonym: Sanfilippo's disease

See also: mucopolysaccharidosis

Medical Dictionary, © 2009 Farlex and Partners