N acetyltransferase deficiency

Common Name(s)

N acetyltransferase deficiency, N-terminal acetyltransferase deficiency

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "N acetyltransferase deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "N acetyltransferase deficiency" returned 3 free, full-text research articles on human participants. First 3 results:

Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency.
 

Author(s): Alan F Rope, Kai Wang, Rune Evjenth, Jinchuan Xing, Jennifer J Johnston, Jeffrey J Swensen, W Evan Johnson, Barry Moore, Chad D Huff, Lynne M Bird, John C Carey, John M Opitz, Cathy A Stevens, Tao Jiang, Christa Schank, Heidi Deborah Fain, Reid Robison, Brian Dalley, Steven Chin, Sarah T South, Theodore J Pysher, Lynn B Jorde, Hakon Hakonarson, Johan R Lillehaug, Leslie G Biesecker, Mark Yandell, Thomas Arnesen, Gholson J Lyon

Journal: Am. J. Hum. Genet.. 2011 Jul;89(1):28-43.

 

We have identified two families with a previously undescribed lethal X-linked disorder of infancy; the disorder comprises a distinct combination of an aged appearance, craniofacial anomalies, hypotonia, global developmental delays, cryptorchidism, and cardiac arrhythmias. Using X ...

Last Updated: 18 Jul 2011

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Analysis of the biogenesis of heparan sulfate acetyl-CoA:alpha-glucosaminide N-acetyltransferase provides insights into the mechanism underlying its complete deficiency in mucopolysaccharidosis IIIC.
 

Author(s): St├ęphanie Durand, Matthew Feldhammer, Eric Bonneil, Pierre Thibault, Alexey V Pshezhetsky

Journal: J. Biol. Chem.. 2010 Oct;285(41):31233-42.

 

Heparan sulfate acetyl-CoA:╬▒-glucosaminide N-acetyltransferase (HGSNAT) catalyzes the transmembrane acetylation of heparan sulfate in lysosomes required for its further catabolism. Inherited deficiency of HGSNAT in humans results in lysosomal storage of heparan sulfate and causes ...

Last Updated: 4 Oct 2010

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Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts.
 

Author(s): U Klein, H Kresse, K von Figura

Journal: Proc. Natl. Acad. Sci. U.S.A.. 1978 Oct;75(10):5185-9.

 

Removal of N-sulfated glucosamine residues during degradation of heparan sulfate is accomplished by the sequential action of three enzymes. Action of sulfamidase results in the formation of alpha-glucosaminide residues. Removal of these groups requires conversion to alpha-N-acetylglucosaminide ...

Last Updated: 25 Apr 1979

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Reviews from the PubMed Database

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The terms "N acetyltransferase deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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