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What is Motor and cognitive disorder due to sepiapterin reductase deficiency?

What is Motor and cognitive disorder due to sepiapterin reductase deficiency?

  • Motor and cognitive disorder due to sepiapterin reductase deficiency: A rare condition characterized by an enzyme deficiency (sepiapterin reductase) which results in motor and cognitive problems.

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Motor and cognitive disorder due to sepiapterin reductase deficiency as a "rare disease".
Source - Orphanet

Motor and cognitive disorder due to sepiapterin reductase deficiency: Introduction

Types of Motor and cognitive disorder due to sepiapterin reductase deficiency:

Broader types of Motor and cognitive disorder due to sepiapterin reductase deficiency:

What causes Motor and cognitive disorder due to sepiapterin reductase deficiency?

Causes of Motor and cognitive disorder due to sepiapterin reductase deficiency: see causes of Motor and cognitive disorder due to sepiapterin reductase deficiency
Cause of Motor and cognitive disorder due to sepiapterin reductase deficiency: The condition is inherited in an autosomal recessive manner.

What are the symptoms of Motor and cognitive disorder due to sepiapterin reductase deficiency?

Symptoms of Motor and cognitive disorder due to sepiapterin reductase deficiency: see symptoms of Motor and cognitive disorder due to sepiapterin reductase deficiency

Onset of Motor and cognitive disorder due to sepiapterin reductase deficiency: Childhood

Motor and cognitive disorder due to sepiapterin reductase deficiency: Testing

Diagnostic testing: see tests for Motor and cognitive disorder due to sepiapterin reductase deficiency.

Misdiagnosis: see misdiagnosis and Motor and cognitive disorder due to sepiapterin reductase deficiency.

How is it treated?

Treatments for Motor and cognitive disorder due to sepiapterin reductase deficiency: see treatments for Motor and cognitive disorder due to sepiapterin reductase deficiency

Name of Motor and cognitive disorder due to sepiapterin reductase deficiency

Main name of condition: Motor and cognitive disorder due to sepiapterin reductase deficiency

 

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