Proc Natl Acad Sci U S A. 1972 Jul;69(7):1720-2.

Sanfilippo syndrome: profound deficiency of alpha-acetylglucosaminidase activity in organs and skin fibroblasts from type-B patients.

Abstract

Cultured skin fibroblasts from two patients with Sanfilippo syndrome, Type B were strikingly deficient in alpha-acetylglucosaminidase activity (alpha-2-acetamido-2-deoxy-D-glucoside acetamidodeoxyglucohydrolase, EC 3.2.1.X). A similar deficiency was found in frozen organs from two other patients. A partial deficiency of alpha-acetylglucosaminidase was found in cultured skin fibroblasts from both parents of one patient. Soluble endogenous inhibitors did not account for the enzyme deficiency. Other lysosomal hydrolases were normal or increased in cultured fibroblasts from patients with this disease. No deficiency of alpha-acetylglucosaminidase is present in other genetic mucopolysaccharidoses, including Sanfilippo Type A.

PMID:: 4261742; [PubMed - indexed for MEDLINE]
PMCID:: PMC426786

Free PMC Article

LinkOut - more resources

Full Text Sources

Medical

mucopolysaccharidosis type III - Genetics Home Reference

Supplemental Content

Save items

Related citations in PubMed

Acid glycosidases in mucopolysaccharidoses fibroblasts. [Biochem Med. 1971]
Acid glycosidases in mucopolysaccharidoses fibroblasts.
Fluharty AL, Porter MT, Lassila EL, Trammell J, Carrel RE, Kihara H. Biochem Med. 1971 Sep; 4(2):110-20.
A recognition marker required for uptake of a lysosomal enzyme by cultured fibroblasts. [Biochem Biophys Res Commun. 1974]
A recognition marker required for uptake of a lysosomal enzyme by cultured fibroblasts.
Hickman S, Shapiro LJ, Neufeld EF. Biochem Biophys Res Commun. 1974 Mar 15; 57(1):55-61.
Lysosomal enzymes in cultured cells from mucopolysaccharidoses. [Lab Invest. 1972]
Lysosomal enzymes in cultured cells from mucopolysaccharidoses.
Keyser AJ, Priest RE, Priest JH. Lab Invest. 1972 Dec; 27(6):600-5.
Review [Recent data on mucopolysaccharidoses]. [Monatsschr Kinderheilkd. 1973]
Review [Recent data on mucopolysaccharidoses].
Spranger J. Monatsschr Kinderheilkd. 1973 May; 121(5):181-3.
Review [Biochemical diagnosis of mucopolysaccharidoses in cell culture (author's transl)]. [Monatsschr Kinderheilkd. 1974]
Review [Biochemical diagnosis of mucopolysaccharidoses in cell culture (author's transl)].
Wendel U, Rüdiger HW, Passarge E. Monatsschr Kinderheilkd. 1974 Jan; 122(1):23-30.

See reviews... See all...

Cited by 16 PubMed Central articles

Experimental animal model for mucopolysaccharidosis: suramin-induced glycosaminoglycan and sphingolipid accumulation in the rat. [Proc Natl Acad Sci U S A. 1980]
Experimental animal model for mucopolysaccharidosis: suramin-induced glycosaminoglycan and sphingolipid accumulation in the rat.
Constantopoulos G, Rees S, Cragg BG, Barranger JA, Brady RO. Proc Natl Acad Sci U S A. 1980 Jun; 77(6):3700-4.
Sanfilippo disease type D: deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation. [Proc Natl Acad Sci U S A. 1980]
Sanfilippo disease type D: deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation.
Kresse H, Paschke E, von Figura K, Gilberg W, Fuchs W. Proc Natl Acad Sci U S A. 1980 Nov; 77(11):6822-6.
Biosynthesis and maturation of alpha-N-acetylglucosaminidase in normal and Sanfilippo B-fibroblasts. [Am J Hum Genet. 1984]
Biosynthesis and maturation of alpha-N-acetylglucosaminidase in normal and Sanfilippo B-fibroblasts.
von Figura K, Hasilik A, Steckel F, van de Kamp J. Am J Hum Genet. 1984 Jan; 36(1):93-100.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Compound (MeSH Keyword)
PubChem chemical compound records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
References for this PMC Article
Citation referenced in PubMed article. Only valid for PubMed citations that are also in PMC.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Free in PMC
Free full text articles in PMC
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Sanfilippo syndrome: profound deficiency of alpha-acetylglucosaminidase activity...
Sanfilippo syndrome: profound deficiency of alpha-acetylglucosaminidase activity in organs and skin fibroblasts from type-B patients.
Proc Natl Acad Sci U S A. 1972 Jul ;69(7):1720-2.

PubMed
Are all recently detoxified alcoholics depressed?
Are all recently detoxified alcoholics depressed?
Am J Psychiatry. 1979 Apr ;136(4B):586-8.

PubMed
[Heterogeneity of erythrocytic glucose-6-phosphate dehydrogenase deficiency in n...
[Heterogeneity of erythrocytic glucose-6-phosphate dehydrogenase deficiency in negroes. Kinetic study and description of 2 new variants "Gd(-)Dakar and Gd(-)Mali"].
Nouv Rev Fr Hematol. 1971 Sep-Oct ;11(5):741-58.

PubMed
Excretion of imipramine and desipramine in human breast milk.
Excretion of imipramine and desipramine in human breast milk.
Am J Psychiatry. 1979 Apr ;136(4A):451-2.

PubMed
The relationship of early maternal separation to borderline personality in child...
The relationship of early maternal separation to borderline personality in children and adolescents: a pilot study.
Am J Psychiatry. 1979 Apr ;136(4A):424-6.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to:

Sanfilippo syndrome: profound deficiency of alpha-acetylglucosaminidase activity in organs and skin fibroblasts from type-B patients.

Abstract

MeSH Terms, Substances

MeSH Terms

Substances

LinkOut - more resources

Full Text Sources

Medical

Supplemental Content

Save items

Related citations in PubMed

Cited by 16 PubMed Central articles

Related information

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information