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Learn About Beta-Ketothiolase Deficiency

What is the definition of Beta-Ketothiolase Deficiency?

Beta-ketothiolase deficiency is an inherited disorder in which the body cannot effectively process a protein building block (amino acid) called isoleucine. This disorder also impairs the body's ability to process ketones, which are molecules produced during the breakdown of fats.

What are the causes of Beta-Ketothiolase Deficiency?

Mutations in the ACAT1 gene cause beta-ketothiolase deficiency. This gene provides instructions for making an enzyme that is found in the energy-producing centers within cells (mitochondria). This enzyme plays an essential role in breaking down proteins and fats from the diet. Specifically, the ACAT1 enzyme helps process isoleucine, which is a building block of many proteins, and ketones, which are produced during the breakdown of fats.

How prevalent is Beta-Ketothiolase Deficiency?

Beta-ketothiolase deficiency appears to be very rare. Fewer than 250 affected individuals have been reported in the medical literature.

Is Beta-Ketothiolase Deficiency an inherited disorder?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Who are the top Beta-Ketothiolase Deficiency Local Doctors?
Distinguished in Beta-Ketothiolase Deficiency
Distinguished in Beta-Ketothiolase Deficiency
Gifu-shi, JP 

Toshiyuki Fukao-Shigemura practices in Gifu-shi, Japan. Fukao-Shigemura and is rated as a Distinguished expert by MediFind in the treatment of Beta-Ketothiolase Deficiency. Their top areas of expertise are Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency, Beta-Ketothiolase Deficiency, Metabolic Acidosis, and Primary Carnitine Deficiency.

Distinguished in Beta-Ketothiolase Deficiency
Distinguished in Beta-Ketothiolase Deficiency
Gifu-shi, JP 

Toshiyuki Fukao practices in Gifu-shi, Japan. Fukao and is rated as a Distinguished expert by MediFind in the treatment of Beta-Ketothiolase Deficiency. His top areas of expertise are Beta-Ketothiolase Deficiency, Gorham's Disease, Skeletal-Extraskeletal Angiomatosis, Lymphangiomatosis, and Bone Marrow Transplant.

 
 
 
 
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Distinguished in Beta-Ketothiolase Deficiency
Distinguished in Beta-Ketothiolase Deficiency
Kasugai, JP 

Yuka Aoyama practices in Kasugai, Japan. Aoyama and is rated as a Distinguished expert by MediFind in the treatment of Beta-Ketothiolase Deficiency. Her top areas of expertise are Beta-Ketothiolase Deficiency, Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency, Metabolic Acidosis, and Enlarged Liver.

What are the latest Beta-Ketothiolase Deficiency Clinical Trials?
Universal Genomic Newborn Screening in the Wallonia-Brussels Federation: Baby Detect

Summary: Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of life. Baby Detect Project is an innovative NBS program using a pane...

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Who are the sources who wrote this article ?

Published Date: June 01, 2020
Published By: National Institutes of Health

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