Contributor: Gordon K. Klintworth
Acetyl-CoA:alpha-glucosaminide N-acetyl transferase deficiency (mucopolysacharidosis type IIIC, Sanfilippo syndrome type C, OMIM # 252930) is an autosomal recessive mucopolysaccharidosis. It is the only known lysosomal storage disease in which the defective enzyme is not an acid hydrolase. It is caused by deficiency of acetyl-CoA: alpha-glucosaminide N-acetyltransferase. The gene for this enzyme has been mapped to human chromosome 14 and the enzymatic defect leads to an accumulation of partially degraded fragments of heparan sulfate in the tissues, the abnormal appearance of heparan sulfate in the urine and a slowly progressive cerebral atrophy. Increased levels of gangliosides accumulate in the brain. The disease is usually diagnosed at 2-6 years of age and is ultimately fatal. The clinical manifestations include hyperactivity, attention deficit disorder, developmental delay, hirsutism and coarse facial features. A progressive neurological deterioration begins in childhood and includes aphasia, vasomotor instability, epilepsy and dementia.