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What is Beta ketothiolase deficiency?

What is Beta ketothiolase deficiency?

  • Beta ketothiolase deficiency: A rare inherited disease characterized by the bodies inability to metabolise certain amino acids and products of the breakdown of fat. Harmful levels of organic acids build up in the body and cause ketoacidic attacks.

Beta ketothiolase deficiency is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Beta ketothiolase deficiency, or a subtype of Beta ketothiolase deficiency, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Beta ketothiolase deficiency as a "rare disease".
Source - Orphanet

Beta ketothiolase deficiency: Introduction

Types of Beta ketothiolase deficiency:

Broader types of Beta ketothiolase deficiency:

How many people get Beta ketothiolase deficiency?

Prevalance of Beta ketothiolase deficiency: 50 - 60 cases of beta-ketothiolase deficiency have been reported worldwide, Genetics Home Reference website
Prevalance Rate of Beta ketothiolase deficiency: approx 1 in 5,440,000 or 0.00% or 49 people in USA [about data]

How serious is Beta ketothiolase deficiency?

Complications of Beta ketothiolase deficiency: see complications of Beta ketothiolase deficiency

What causes Beta ketothiolase deficiency?

Causes of Beta ketothiolase deficiency: see causes of Beta ketothiolase deficiency

What are the symptoms of Beta ketothiolase deficiency?

Symptoms of Beta ketothiolase deficiency: see symptoms of Beta ketothiolase deficiency

Complications of Beta ketothiolase deficiency: see complications of Beta ketothiolase deficiency

Onset of Beta ketothiolase deficiency: usually 6-24 months

Can anyone else get Beta ketothiolase deficiency?

More information: see contagiousness of Beta ketothiolase deficiency
Inheritance: see inheritance of Beta ketothiolase deficiency

Beta ketothiolase deficiency: Testing

Misdiagnosis: see misdiagnosis and Beta ketothiolase deficiency.

How is it treated?

Doctors and Medical Specialists for Beta ketothiolase deficiency: Medical Geneticist ; see also doctors and medical specialists for Beta ketothiolase deficiency.
Treatments for Beta ketothiolase deficiency: see treatments for Beta ketothiolase deficiency

Name and Aliases of Beta ketothiolase deficiency

Main name of condition: Beta ketothiolase deficiency

Other names or spellings for Beta ketothiolase deficiency:

Ketoacidosis due to betaketothiolase deficiency, ketotic hyperglycinemia, alpha-methylacetoacetic aciduria, 3-alpha-oxothiolase deficiency, 3-alpha-ktd deficiency, 3-alpha-ketothiolase deficiency, 2-alpha-methyl-3-hydroxybutyricacidemia, 2M3HBA, MAT deficiency, 3-Ketothiolase deficiency, 2-methylhydroxybutyric academia, mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency [potassium stimulated], mitochondrial acetoacetyl-CoA thiolase deficiency, T2 deficiency, alpha methyl acetoacetyl-CoA thiolase deficiency, 2-Methylacetoacetyl CoA thiolase deficiency, 2-methyl-3-hydroxybutyricacidemia, 3-oxothiolase deficiency

Mitochondrial acetoacetyl-CoA thiolase deficiency, 3- ketothiolase deficiency, 3-oxothiolase deficiency, Acetyl-CoA C-acetyltransferase deficiency, Alpha-methylacetoaceticaciduria Source - Diseases Database

2-methyl-3-hydroxybutyricacidemia, 3-ketothiolase deficiency, 3-oxothiolase deficiency, Alpha-methylacetoaceticaciduria, Mitochondrial Acetoacetyl-CoA Thiolase deficiency
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Beta ketothiolase deficiency: Related Conditions

Research the causes of these diseases that are similar to, or related to, Beta ketothiolase deficiency:


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