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Diseases » Thiolase deficiency » Summary

What is Thiolase deficiency?

What is Thiolase deficiency?

  • Thiolase deficiency: A rare syndrome involving a deficiency of an enzyme called thiolase which results in mental retardation and muscle problems.

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

Thiolase deficiency: Introduction

Types of Thiolase deficiency:

Broader types of Thiolase deficiency:

What causes Thiolase deficiency?

Causes of Thiolase deficiency: see causes of Thiolase deficiency

What are the symptoms of Thiolase deficiency?

Symptoms of Thiolase deficiency: see symptoms of Thiolase deficiency

Thiolase deficiency: Testing

Misdiagnosis: see misdiagnosis and Thiolase deficiency.

How is it treated?

Doctors and Medical Specialists for Thiolase deficiency: Medical Geneticist ; see also doctors and medical specialists for Thiolase deficiency.
Treatments for Thiolase deficiency: see treatments for Thiolase deficiency
Research for Thiolase deficiency: see research for Thiolase deficiency

Name and Aliases of Thiolase deficiency

Main name of condition: Thiolase deficiency

Other names or spellings for Thiolase deficiency:

Pseudo-Zellweger syndrome, Pseudo Zellweger syndrome leukodystrophy

Thiolase deficiency: Related Conditions

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


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