Thiolase deficiency

Common Name(s)

Thiolase 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 "Thiolase 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 "Thiolase deficiency" returned 16 free, full-text research articles on human participants. First 3 results:

Siblings with mitochondrial acetoacetyl-CoA thiolase deficiency not identified by newborn screening.
 

Author(s): Kyriakie Sarafoglou, Dietrich Matern, Krista Redlinger-Grosse, Kristi Bentler, Amy Gaviglio, Cary O Harding, Piero Rinaldo

Journal: Pediatrics. 2011 Jul;128(1):e246-50.

 

Screened for by all state newborn screening (NBS) programs in the United States, mitochondrial acetoacetyl-coenzyme A thiolase (T2), or β-ketothiolase, deficiency is a rare autosomal recessive disorder that causes ketoacidosis and hypoglycemia/hyperglycemia. Outcomes vary from normal ...

Last Updated: 4 Jul 2011

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The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach.
 

Author(s): Francesca Catanzano, Daniela Ombrone, Cristina Di Stefano, Anna Rossi, Norberto Nosari, Emanuela Scolamiero, Igor Tandurella, Giulia Frisso, Giancarlo Parenti, Margherita Ruoppolo, Generoso Andria, Francesco Salvatore

Journal: J. Inherit. Metab. Dis.. 2010 Dec;33 Suppl 3():S91-4.

 

A pilot expanded newborn screening programme to detect inherited metabolic disorders by means of liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS) began in the Campania region, southern Italy, in 2007. By October 2009, >8,800 dried blood samples on filter paper ...

Last Updated: 30 Aug 2013

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Different clinical presentation in siblings with mitochondrial acetoacetyl-CoA thiolase deficiency and identification of two novel mutations.
 

Author(s): Susanne Thümmler, Didier Dupont, Cécile Acquaviva, Toshiyuki Fukao, Dominique de Ricaud

Journal: Tohoku J. Exp. Med.. 2010 Jan;220(1):27-31.

 

Mitochondrial acetoacetyl-CoA thiolase (T2) catalyzes 2-methylacetoacetyl-CoA cleavage into acetyl-CoA and propionyl-CoA in isoleucine catabolism and interconversion between acetyl-CoA and acetoacetyl-CoA in ketone body metabolism. T2 deficiency is a rare metabolic disease of autosomal ...

Last Updated: 4 Jan 2010

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Thiolase 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

There are currently no open clinical trials for this condition.