PMID: 108106Apr 3, 1979

Sanfilippo type C disease: clinical findings in four patients with a new variant of mucopolysaccharidosis III

European Journal of Pediatrics
C BartsocasM A Giesberts

Abstract

A new genetic variant of the Sanfilippo syndrome due to deficiency of acetyl CoA: alpha-glucosaminide N-acetyltransferase, was recently demonstrated in four patients. The clinical findings of these patients are reported here. Differential diagnosis from other types of the Sanfilippo syndrome on clinical and routine laboratory criteria is difficult and enzyme assay is necessary to reach the diagnosis. Since two of the patients reported are females and consanguinity was present in one case, autosomal recessive inheritance is most probable.

References

Oct 1, 1978·Proceedings of the National Academy of Sciences of the United States of America·U KleinK Von Figura
Jun 1, 1968·Proceedings of the National Academy of Sciences of the United States of America·J C FratantoniE F Neufeld
Mar 5, 1971·Biochemical and Biophysical Research Communications·H KresseE F Neufeld
Jul 25, 1972·Biochemical and Biophysical Research Communications·K Von Figura, H Kresse
Jul 1, 1972·Proceedings of the National Academy of Sciences of the United States of America·J S O'Brien
Aug 1, 1972·Clinica Chimica Acta; International Journal of Clinical Chemistry·R Humbel, N A Chamoles
Oct 27, 1972·Annals of the New York Academy of Sciences·J W Estes
Mar 1, 1972·Annals of Human Genetics·J L MurdochV A McKusick

Citations

May 1, 1981·Italian Journal of Neurological Sciences·A FedericoG C Guazzi
Oct 14, 2009·PloS One·Matthew FeldhammerAlexey V Pshezhetsky
Mar 15, 1974·Biochemical and Biophysical Research Communications·S HickmanE F Neufeld
Nov 21, 2007·Molecular Genetics and Metabolism·G J G RuijterF A Wijburg
Mar 1, 1983·Acta paediatrica Scandinavica·J ArvidssonH Hecht
Jan 9, 2015·Brain : a Journal of Neurology·Carla MartinsAlexey V Pshezhetsky
Jan 11, 1992·Critical Reviews in Toxicology·S A Fischer, L W Hall

Related Concepts

Teens
Consanguinous Mating
Differential Diagnosis
Mucopolysaccharidoses
Genealogical Tree

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