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

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 clin...

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Bibliographic Details
Published inEuropean journal of pediatrics Vol. 130; no. 4; p. 251
Main Authors Bartsocas, C, Gröbe, H, van de Kamp, J J, von Figura, K, Kresse, H, Klein, U, Giesberts, M A
Format Journal Article
LanguageEnglish
Published Germany 01.12.1979
Subjects
Adolescent
Adult
Child
Consanguinity
Diagnosis, Differential
Female
Humans
Male
Mucopolysaccharidoses - diagnosis
Mucopolysaccharidoses - genetics
Pedigree
Sex Factors
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Summary: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.
ISSN:0340-6199
DOI:10.1007/BF00441361