Question 1

What is adenylosuccinate lyase deficiency?

Accepted Answer

Adenylosuccinate lyase deficiency is a disorder of purine metabolism. People with this condition may have developmental challenges including intellectual disability, psychomotor delay or regression, seizures, and autistic features.

This condition affects the way the body processes purine, an important building block for DNA and other cellular functions. The disorder is rare and can vary in severity from person to person.

Question 2

What are the symptoms of adenylosuccinate lyase deficiency?

Accepted Answer

Common signs in people with adenylosuccinate lyase deficiency include intellectual disability, delays in motor skills or loss of previously acquired skills, seizures, and traits associated with autism.

Question 3

What causes adenylosuccinate lyase deficiency?

Accepted Answer

Adenylosuccinate lyase deficiency is caused by changes in the ADSL gene. These genetic variants affect the body’s ability to produce the enzyme adenylosuccinate lyase, which is needed for proper purine metabolism. Associated genes include ADSL.

Question 4

How is adenylosuccinate lyase deficiency inherited?

Accepted Answer

adenylosuccinate lyase deficiency follows an autosomal recessive inheritance pattern. This means a child must inherit a copy of the altered gene from both parents to develop the condition. Parents who each carry one copy typically do not show symptoms.

Question 5

How rare is adenylosuccinate lyase deficiency?

Accepted Answer

adenylosuccinate lyase deficiency is classified as very rare. The estimated prevalence is approximately <1 in 1,000,000. Because rare disease data can be limited, actual numbers may differ from published estimates.

Question 6

How is adenylosuccinate lyase deficiency diagnosed?

Accepted Answer

Information about diagnosis is currently limited for this condition.

Question 7

Are there treatments for adenylosuccinate lyase deficiency?

Accepted Answer

Information about treatment is currently limited for this condition.

Question 8

What are the developmental challenges associated with adenylosuccinate lyase deficiency?

Accepted Answer

Adenylosuccinate lyase deficiency can lead to developmental challenges such as intellectual disability and delays in motor skills. Some individuals may also experience regression, where they lose skills they had previously learned. Additionally, seizures and traits associated with autism can be common in people with this condition.

Question 9

How does adenylosuccinate lyase deficiency affect daily life?

Accepted Answer

Living with adenylosuccinate lyase deficiency can impact daily life in various ways. Individuals may need support for developmental delays and may require therapies to help with motor skills and learning. Caregivers often play a crucial role in managing seizures and providing educational support tailored to the individual's needs.

Question 10

What is the prognosis for someone with adenylosuccinate lyase deficiency?

Accepted Answer

Currently, information about the prognosis for adenylosuccinate lyase deficiency is limited. The severity of the condition can vary widely among individuals, which can affect long-term outcomes. Ongoing research may provide more insights into life expectancy and quality of life for those affected.

Question 11

Are there any specialists recommended for managing adenylosuccinate lyase deficiency?

Accepted Answer

While specific recommendations for specialists are not detailed, individuals with adenylosuccinate lyase deficiency may benefit from a team of healthcare providers. This could include neurologists for seizure management, developmental pediatricians for growth and learning support, and therapists for motor skills development. A coordinated approach can help address the various challenges associated with this condition.

Organ System	Phenotype Count	Example Features
Brain and nerves	15	Hemiplegia, Inability to walk, Seizure
Muscles	5	Shrinkage of the cerebellum (cerebellar atrophy), Low muscle tone (hypotonia), Generalized hypotonia
Head and neck	3	Thin upper lip vermilion, Microcephaly, Abnormal facial shape
Eyes	2	Strabismus, Nystagmus
Bones and joints	2	Severe backward arching of the body (opisthotonus), Skeletal muscle atrophy
Growth and development	1	Growth delay
Kidneys and urinary system	1	Elevated urinary succinylaminoimidazole carboxamide riboside level

Variant	Significance	Review Stars	Hotspot
529212	Conflicting classifications of pathogenicity	—	Yes
451308	Conflicting classifications of pathogenicity	—	Yes
450065	Conflicting classifications of pathogenicity	—	Yes
235410	Conflicting classifications of pathogenicity	—	Yes

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adenylosuccinate lyase deficiency

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

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External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

adenylosuccinate lyase deficiency

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is adenylosuccinate lyase deficiency?

What are the symptoms of adenylosuccinate lyase deficiency?

What causes adenylosuccinate lyase deficiency?

How is adenylosuccinate lyase deficiency inherited?

How rare is adenylosuccinate lyase deficiency?

How is adenylosuccinate lyase deficiency diagnosed?

Are there treatments for adenylosuccinate lyase deficiency?

What are the developmental challenges associated with adenylosuccinate lyase deficiency?

How does adenylosuccinate lyase deficiency affect daily life?

What is the prognosis for someone with adenylosuccinate lyase deficiency?

Are there any specialists recommended for managing adenylosuccinate lyase deficiency?