What is Adenylosuccinate lyase deficiency?

What is Adenylosuccinate lyase deficiency?

• Adenylosuccinate lyase deficiency: A rare inherited disorder characterized by a deficiency of the enzyme called adenlyosuccinate lyase which generally results in psychomotor retardation and autistic behavior.

Adenylosuccinate lyase deficiency is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Adenylosuccinate lyase deficiency, or a subtype of Adenylosuccinate lyase 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 Adenylosuccinate lyase deficiency as a "rare disease".
Source - Orphanet

Adenylosuccinate lyase deficiency: Introduction

Types of Adenylosuccinate lyase deficiency:

Broader types of Adenylosuccinate lyase deficiency:

• Genetic conditions
• Metabolic conditions
• Congenital conditions - metabolic disorders
• Congenital conditions
• more types...»

How serious is Adenylosuccinate lyase deficiency?

Complications of Adenylosuccinate lyase deficiency: see complications of Adenylosuccinate lyase deficiency

What causes Adenylosuccinate lyase deficiency?

Causes of Adenylosuccinate lyase deficiency: see causes of Adenylosuccinate lyase deficiency

What are the symptoms of Adenylosuccinate lyase deficiency?

Symptoms of Adenylosuccinate lyase deficiency: see symptoms of Adenylosuccinate lyase deficiency

Complications of Adenylosuccinate lyase deficiency: see complications of Adenylosuccinate lyase deficiency

Adenylosuccinate lyase deficiency: Testing

Misdiagnosis: see misdiagnosis and Adenylosuccinate lyase deficiency.

How is it treated?

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

Name and Aliases of Adenylosuccinate lyase deficiency

Main name of condition: Adenylosuccinate lyase deficiency

ADSL deficiency, Adenylosuccinase deficiency, ADSL, Succinylpurinemic autism, Adenylosuccinate lyase deficiency type 1 (subtype), Adenylosuccinate lyase deficiency type 2 (subtype), Adenylosuccinate lyase deficiency type 3 (subtype), Adenylosuccinate lyase deficiency type 4 (subtype)

Adenylosuccinase deficiency, Succinyladenosinuria Source - Diseases Database

ADSL, Adenylosuccinase deficiency, Adenylosuccinate lyase deficiency type 1 (subtype), Adenylosuccinate lyase deficiency type 2 (subtype), Adenylosuccinate lyase deficiency type 3 (subtype), Adenylosuccinate lyase deficiency type 4 (subtype), Succinylpurinemic autism
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Adenylosuccinate lyase deficiency: Related Conditions

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

• Rare autosomal recessive disorder
• Psychomotor retardation
• Adenosine monophosphate

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