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Adenylosuccinate lyase deficiency
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Adenylosuccinate lyase deficiency

Adenylosuccinate lyase deficiency is a rare neurological disorder characterized by brain dysfunction, leading to delayed psychomotor development, autistic traits, and seizures, with specific chemical markers in body fluids aiding diagnosis.

Overview

Adenylosuccinate lyase deficiency is a neurological disorder that causes brain dysfunction (encephalopathy) leading to delayed development of mental and movement abilities (psychomotor delay), autistic characteristics that affect communication and social interaction, and seizures. A key feature that can help with diagnosis of this condition is the presence of chemicals called succinylaminoimidazole carboxamide riboside (SAICAr) and succinyladenosine (S-Ado) in body fluids.

Adenylosuccinate lyase deficiency is classified into three forms based on the severity of the signs and symptoms. The most severe is the neonatal form. Signs and symptoms of this form can be detected at or before birth and can include impaired growth during fetal development and a small head size. Affected newborns have severe encephalopathy, which leads to a lack of movement, difficulty feeding, and life-threatening respiratory problems. Some affected babies develop seizures that do not improve with treatment. Because of the severity of the

Frequently Asked Questions

In the most severe neonatal form, signs can appear at or even before birth, including impaired fetal growth and a small head size (microcephaly). After birth, affected newborns may show severe brain dysfunction (encephalopathy) leading to a lack of movement, significant feeding difficulties, and life-threatening respiratory problems. Seizures that are difficult to control with medication are also a common early sign.
The prognosis for adenylosuccinate lyase deficiency varies significantly depending on the severity of the form. The neonatal form is the most severe, often leading to life-threatening complications and a very poor prognosis, with many affected infants not surviving beyond early childhood. Milder forms, which may present later, can have a better prognosis but still involve significant neurological challenges, including intellectual disability, autistic features, and ongoing seizure management throughout life.
Management is primarily supportive and aims to alleviate symptoms. Seizures are managed with anti-epileptic medications, though they can be challenging to control. For developmental delays, comprehensive early intervention programs are crucial, including physical therapy, occupational therapy, and speech therapy to maximize psychomotor development. Behavioral therapies can also help address autistic traits. Nutritional support is often needed for feeding difficulties.
Diagnosis typically involves a combination of clinical evaluation, neuroimaging, and specific biochemical tests. The key to diagnosis is detecting elevated levels of succinylaminoimidazole carboxamide riboside (SAICAr) and succinyladenosine (S-Ado) in body fluids such as urine, cerebrospinal fluid, and plasma. These unique chemical markers are highly indicative of the deficiency and are usually confirmed by genetic testing for variants in the ADSL gene.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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