Beta-Ketothiolase Deficiency Overview
Learn About 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.
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.
Beta-ketothiolase deficiency appears to be very rare. Fewer than 250 affected individuals have been reported in the medical literature.
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.
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.
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.
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.
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Published Date: June 01, 2020
Published By: National Institutes of Health