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Deficiency of acetyl-CoA acetyltransferase

Known as: 3-Methylhydroxybutyric Acidemia, Beta ketothiolase deficiency, 3-KTD DEFICIENCY 
A rare autosomal recessive inherited disorder caused by mutations in the ACAT1 gene. It is characterized by the reduction or elimination of the… 
National Institutes of Health

Related topics

Related topics

12 relations
ACAT1, ASN93SERAutosomal recessive inheritanceConditions tested for in this newborn screening study:ID:Pt:Bld.dot:NomDehydration

Broader (2)

Acetyl-CoA C-AcyltransferaseAmino Acid Metabolism, Inborn Errors

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
Structural library of coordination polymers based on flexible linkers exploiting the role of linker coordination angle: synthesis, structural characterization and magnetic properties
Herein we report six new coordination polymers [Co(1,2-pda)(1,2-bix)]n (1a), [Co(hfipbb)(1,2-bix)]n·nH2O (2a), [Co(ADA)(1,2-bix… 
2011
2011
Quantitative liquid chromatography coupled with tandem mass spectrometry analysis of urinary acylglycines: application to the diagnosis of inborn errors of metabolism.
2008
2008
Aggregation of the hairy rod conjugated polyelectrolyte poly{1,4-phenylene-[9,9-bis(4-phenoxybutylsulfonate)]fluorene-2,7-diyl} in aqueous solution: an experimental and molecular modelling study.
The aggregation of the fluorescent hairy rod, anionic conjugated polyelectrolyte poly{1,4-phenylene-[9,9-bis(4… 
Highly Cited
2005
Highly Cited
2005
Dielectric behavior and microstructure of (Bi1∕2Na1∕2)TiO3–(Bi1∕2K1∕2)TiO3–BaTiO3 lead-free piezoelectric ceramics
(0.95−x)(Bi1∕2Na1∕2)TiO3–x(Bi1∕2K1∕2)TiO3–0.05BaTiO3 lead-free piezoelectric ceramics (abbreviated as BNT–BKT–BT100x with x… 
Review
1994
Review
1994
3-Ketothiolase deficiency: a review and four new patients with neurologic symptoms
Review
1994
Review
1994
Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism
1990
1990
3-Oxothiolase Activities and [14C]-2-Methylbutanoic Acid Incorporation in Cultured Fibroblasts from 13 Cases of Suspected 3-Oxothiolase Deficiency
ABSTRACT: Cultured fibroblasts from 13 patients with organic aciduria suggesting 3-oxothiolase deficiency were studied by… 
1988
1988
New coherent states in periodic arrays of ultrasmall Josephson junctions.
An extensive study of the thermodynamics of a two-dimensional periodic array of ultrasmall Josephson junctions with and without a… 
1984
1984
Simpler liquid-chromatographic screening for organic acid disorders.
We describe an isocratic cation-exchange chromatographic technique, with ultraviolet detection, for determination of urinary… 
1979
1979
A VARIANT FORM OF 2‐METHYL‐3‐HYDROXYBUTYRIC AND 2‐METHYLACETOACETIC ACIDURIA
Abstract. A new case of assumed β‐ketothiolase deficiency, excreting 2‐methyl‐3‐hydroxybutyrate and tiglylglycine is described in… 
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