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What is Pseudoadrenoleukodystrophy?

What is Pseudoadrenoleukodystrophy?

  • Pseudoadrenoleukodystrophy: A rare disorder where an enzyme deficiency (Acyl-CoA Oxidase) results in symptoms such as seizures, apnea, delayed psychomotor retardation and neurological deterioration.

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

Pseudoadrenoleukodystrophy: Introduction

Types of Pseudoadrenoleukodystrophy:

Broader types of Pseudoadrenoleukodystrophy:

How serious is Pseudoadrenoleukodystrophy?

Complications of Pseudoadrenoleukodystrophy: see complications of Pseudoadrenoleukodystrophy

What causes Pseudoadrenoleukodystrophy?

Causes of Pseudoadrenoleukodystrophy: see causes of Pseudoadrenoleukodystrophy

What are the symptoms of Pseudoadrenoleukodystrophy?

Symptoms of Pseudoadrenoleukodystrophy: see symptoms of Pseudoadrenoleukodystrophy

Complications of Pseudoadrenoleukodystrophy: see complications of Pseudoadrenoleukodystrophy

Pseudoadrenoleukodystrophy: Testing

Diagnostic testing: see tests for Pseudoadrenoleukodystrophy.

Misdiagnosis: see misdiagnosis and Pseudoadrenoleukodystrophy.

How is it treated?

Doctors and Medical Specialists for Pseudoadrenoleukodystrophy: Endocrinologist ; see also doctors and medical specialists for Pseudoadrenoleukodystrophy.
Treatments for Pseudoadrenoleukodystrophy: see treatments for Pseudoadrenoleukodystrophy

Name and Aliases of Pseudoadrenoleukodystrophy

Main name of condition: Pseudoadrenoleukodystrophy

Other names or spellings for Pseudoadrenoleukodystrophy:

Acyl-CoA Oxidase deficiency, peroxisomal acyl-CoA oxidase deficiency, pseudoneonatal adrenoleukodystrophy, Straight-chain ACYL-COA oxidase deficiency

 

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