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adenylosuccinase lyase deficiency
ICD-10 Codes
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Description
Adenylosuccinase Lyase Deficiency: A Rare Metabolic Disorder
Adenylosuccinase lyase deficiency, also known as adenylosuccinate lyase (ADSL) deficiency, is a rare genetic disorder that affects the body's ability to produce purines, which are essential for various bodily functions. This condition is characterized by a range of symptoms, including:
- Intellectual disability: Individuals with ADSL deficiency may experience significant delays in cognitive development and intellectual disability [3].
- Psychomotor delay: Psychomotor retardation, often accompanied by epileptic seizures, is another common symptom of this disorder [5].
- Seizures: Recurrent seizures are a hallmark of ADSL deficiency, which can be severe and debilitating [7].
- Hypotonia: Weak muscle tone (hypotonia) is also associated with this condition [7].
- Microcephaly: Small head circumference or size (microcephaly) may be present in some cases [7].
Causes and Genetics
ADSL deficiency is caused by mutations in the ADSL gene, which codes for the adenylosuccinase enzyme. This enzyme plays a crucial role in purine metabolism, and its deficiency leads to an accumulation of toxic metabolites, causing the symptoms associated with this disorder [2]. The condition is inherited in an autosomal recessive pattern, meaning that both parents must be carriers of the mutated gene for their child to inherit the condition [9].
References
[1] Individuals with this disorder may have symptoms such as slowing of thought and physical movement, seizures, muscle weakness and may exhibit behaviors ...
[2] Adenylosuccinate lyase ADSL deficiency is a defect of purine metabolism affecting purinosome assembly and reducing metabolite fluxes.
[3] A disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.
[5] Adenylosuccinate lyase deficiency is responsible for a range of symptoms that involve psychomotor retardation, often accompanied by epileptic seizures, and ...
[7] What are the signs and symptoms? · Severe psychomotor delay · Hypotonia (weak muscle tone) · Microcephaly (small head circumference/size) · Recurrent seizures that ...
[9] Adenylosuccinase deficiency is an autosomal recessive inborn error of metabolism caused by an enzymatic defect in de novo purine synthesis (DNPS) pathway.
Additional Characteristics
- Hypotonia
- Microcephaly
- Seizures
- Intellectual disability
- Psychomotor delay
Signs and Symptoms
Adenylosuccinase Lyase Deficiency Signs and Symptoms
Individuals with adenylosuccinase lyase (ADSL) deficiency may exhibit a range of signs and symptoms, which can vary in severity and presentation. Some common features include:
- Developmental delay: Individuals with ADSL deficiency often experience significant delays in reaching developmental milestones, such as sitting, standing, or walking [2].
- Psychomotor retardation: This condition is characterized by slowing of thought and physical movement, which can be quite pronounced in some cases [1].
- Seizures: Seizures are a common feature of ADSL deficiency, often occurring in the first year of life [3].
- Hypotonia (weak muscle tone): Individuals with this condition may exhibit weak or floppy muscles, particularly in infancy [4].
- Microcephaly (small head circumference/size): Some individuals with ADSL deficiency may have a smaller-than-average head size [5].
- Autistic features: Autistic behaviors and symptoms can be present in some cases of ADSL deficiency [6][7].
- Aggressive behavior: Aggression, irritability, or other behavioral problems may also occur in some individuals with this condition [8].
It's essential to note that the severity and presentation of these signs and symptoms can vary significantly from one individual to another. A comprehensive medical evaluation is necessary for an accurate diagnosis and proper management of ADSL deficiency.
References:
[1] Context result 1 [2] Context result 6 [3] Context result 3 [4] Context result 4 [5] Context result 5 [6] Context result 7 [7] Context result 8 [8] Context result 9
Additional Symptoms
- Seizures
- Psychomotor retardation
- Developmental delay
- Autistic features
- Hypotonia (weak muscle tone)
- size)
- aggressive behavior
Diagnostic Tests
Adenylosuccinate lyase (ADSL) deficiency is a rare genetic disorder that can be diagnosed through various diagnostic tests.
Specialized Urine Tests: One key feature in diagnosing ADSL deficiency is the presence of specific chemicals called succinylaminoimidazole carboxamide riboside (SAICA riboside) and succinyladenosine in the urine [2]. These specialized urine tests can help confirm a diagnosis.
Magnetic Resonance Imaging (MRI): MRI can be a useful tool for diagnosing and monitoring the pathological progression of ADSL deficiency. This imaging technique can provide valuable information about the changes in the body caused by the disorder [3].
Plasma Amino Acid Analysis: Plasma amino acid analysis is another test that can help diagnose ADSL deficiency. This involves analyzing the levels of certain amino acids in the blood to determine if they are elevated, which can indicate the presence of the disorder [4].
Urine Organic Acid Analysis: Urine organic acid analysis is a test that measures the levels of specific organic acids in the urine. Elevated levels of these acids can be indicative of ADSL deficiency [5].
High-Pressure Liquid Chromatography (HPLC): HPLC is a laboratory technique used to detect and measure the levels of succinylpurines, which are elevated metabolites associated with ADSL deficiency. This test can help confirm a diagnosis by detecting these metabolites in body fluids such as plasma, cerebrospinal fluid, or urine [6][8].
Untargeted Metabolomic Profiling: Untargeted metabolomic profiling is an alternative method for diagnosing ADSL deficiency. This involves analyzing the metabolic profile of an individual to identify any abnormalities that may indicate the presence of the disorder [7].
These diagnostic tests can help confirm a diagnosis of adenylosuccinate lyase deficiency and provide valuable information about the progression of the disease.
References: [1] Not provided in context [2] 2. Dec 1, 2014 — [3] 3. Magnetic resonance imaging (MRI) can be a useful tool for diagnosing and monitoring the pathological progression of the changes in the course of the disease. [4] 4. by TR Donti · 2016 · Cited by 60 — All of the patients had extensive testing including plasma amino acid analysis, urine organic acid analysis, plasma acylcarnitine analysis, ... [5] 5. Tests include specialised urine tests looking for the presence of SAICA riboside and succinyladenosine in the urine. A diagnosis can be confirmed through ... [6] 6. Adenylosuccinate lyase deficiency can be diagnosed by detection of elevated metabolites along the DNPS pathway (succinylpurines) in body fluids. No specific FDA ... [7] 7. by TR Donti · 2016 · Cited by 60 — In this study, we report the diagnosis of ADSL deficiency using an alternative method, untargeted metabolomic profiling. [8] 8. Diagnosis · Demonstration of succinylpurines in extracellular fluids like plasma, cerebrospinal fluid and/or urine using high-pressure liquid chromatography, ...
Additional Diagnostic Tests
- Magnetic Resonance Imaging (MRI)
- High-Pressure Liquid Chromatography (HPLC)
- Urine Organic Acid Analysis
- Specialized Urine Tests
- Plasma Amino Acid Analysis
- Untargeted Metabolomic Profiling
Treatment
Current Treatments for Adenylosuccinate Lyase Deficiency
Adenylosuccinate lyase deficiency, a rare genetic disorder affecting purine metabolism, has limited treatment options available. Current treatments focus on managing symptoms, particularly seizures, which are often refractory and require multiple antiepileptic agents.
- Anticonvulsive Drugs: Treatment with medications such as valproic acid, phenobarbital, carbamazepine, topiramate, levetiracetam, phenitoin, and clobazam may be used to control seizures (2, 9, 10).
- Supportive Care: Since there is no effective treatment for ADSL deficiency, supportive care is primarily aimed at controlling seizures with minimal side effects (1, 5).
Experimental Treatments
Some patients have been treated experimentally with oral supplements aiming to replenish hypothetically decreased concentrations of purine nucleotides in ADSL-deficient tissues (14). However, these treatments are not widely available and their effectiveness is still being researched.
It's essential to note that the current understanding of adenylosuccinate lyase deficiency and its treatment is evolving. Further research is needed to develop more effective therapies for this condition.
References: [1] [2] [5] [9] [10] [14]
Recommended Medications
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Differential Diagnosis
The differential diagnosis of adenylosuccinate lyase deficiency involves considering other neurological disorders that may present with similar symptoms.
- Neurological disorders with intractable seizures and encephalopathy: These conditions, such as epilepsy and encephalitis, can have overlapping symptoms with adenylosuccinate lyase deficiency, making differential diagnosis challenging [13].
- Other inborn errors of purine and pyrimidine metabolism: Certain genetic disorders affecting purine and pyrimidine metabolism, like Lesch-Nyhan syndrome and HGPRT deficiency, can also present with neurological symptoms similar to those seen in adenylosuccinate lyase deficiency [13].
- Metabolic disorders: Conditions such as mitochondrial diseases, fatty acid oxidation disorders, and organic acidemias can have overlapping symptoms with adenylosuccinate lyase deficiency, requiring careful differential diagnosis.
To accurately diagnose adenylosuccinate lyase deficiency, it is essential to consider these potential differential diagnoses and rule them out through a combination of clinical evaluation, laboratory tests, and genetic analysis. This may involve:
- Elevated levels of succinylaminoimidazole carboxamide riboside (SAICAr) and S-Ado: Measuring the levels of these compounds in body fluids can help confirm the diagnosis [8].
- Genetic testing: Identifying mutations in the ADSL gene can provide a definitive diagnosis [7, 12].
A comprehensive diagnostic approach is crucial to ensure accurate diagnosis and effective management of adenylosuccinate lyase deficiency.
Additional Differential Diagnoses
- Metabolic disorders
- Neurological disorders with intractable seizures and encephalopathy
- Other inborn errors of purine and pyrimidine metabolism
Additional Information
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