Point mutations in adenylosuccinate that cause lowered enzymatic activity cause clinical symptoms that mark the condition adenylosuccinate lyase deficiency. (wikipedia.org)
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. (medlineplus.gov)
Adenylosuccinate lyase deficiency is classified into three forms based on the severity of the signs and symptoms. (medlineplus.gov)
Adenylosuccinate lyase deficiency type I (also known as the severe form) is the most common. (medlineplus.gov)
In individuals with adenylosuccinate lyase deficiency type II (also known as the moderate or mild form), development is typically normal for the first few years of life but then slows. (medlineplus.gov)
All forms of adenylosuccinate lyase deficiency are caused by mutations in the ADSL gene. (medlineplus.gov)
Most of the mutations involved in adenylosuccinate lyase deficiency change single protein building blocks (amino acids) in the adenylosuccinate lyase enzyme, which impairs its function. (medlineplus.gov)
damage to brain tissue caused by one or both of these substances likely underlies the neurological problems that occur in adenylosuccinate lyase deficiency. (medlineplus.gov)
Studies suggest that the amount of SAICAr relative to S-Ado reflects the severity of adenylosuccinate lyase deficiency. (medlineplus.gov)
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Typically, your primary care physician will refer you to an Adenylosuccinate Lyase Deficiency doctor near me if they believe it to be necessary based on your symptoms or a formal diagnosis. (medifind.com)
You can also explore your symptoms or research your diagnosis to find doctors who focus on Adenylosuccinate Lyase Deficiency near me, evaluated based on their level of expertise. (medifind.com)
How do I find the best Adenylosuccinate Lyase Deficiency doctor near me? (medifind.com)
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Each Adenylosuccinate Lyase Deficiency doctor near me is assessed based on research, patient volume, standing among peers, and connectedness to other physicians who focus specifically on Adenylosuccinate Lyase Deficiency. (medifind.com)
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How does MediFind identify the best Adenylosuccinate Lyase Deficiency doctors near me? (medifind.com)
When evaluating expertise in Adenylosuccinate Lyase Deficiency, we go beyond simply looking at the number of patients a doctor near me sees for Adenylosuccinate Lyase Deficiency. (medifind.com)
We consider many additional factors such as the number of articles about Adenylosuccinate Lyase Deficiency a doctor has published in medical journals, participation in clinical trials studying Adenylosuccinate Lyase Deficiency, speaking at industry conferences about Adenylosuccinate Lyase Deficiency, prescribing and referral patterns related to Adenylosuccinate Lyase Deficiency (including those located near me), and strength of connections with other experts in Adenylosuccinate Lyase Deficiency. (medifind.com)
Elite Adenylosuccinate Lyase Deficiency doctors near me are global leaders in their fields. (medifind.com)
In addition to seeing a high volume of patients and referrals for Adenylosuccinate Lyase Deficiency, they publish many articles in medical journals, speak at medical conferences, and participate in multiple clinical trials on Adenylosuccinate Lyase Deficiency, often located near me. (medifind.com)
They are likely to be on the cutting edge of new treatments for Adenylosuccinate Lyase Deficiency. (medifind.com)
Adenylosuccinate lyase deficiency is a neurometabolic disorder associated by accumulation of succinylpurines in body fluids that causes encephalopathy. (ajsuccr.org)
Corinna's research specifically uses the model organism, C. elegans, to study the neurological aspects of the rare inborn error of purine metabolism disease known as adenylosuccinate lyase deficiency (ASLD). (psu.edu)
Corinna's research uses C. elegans with a reduced adenylosuccinate lyase activity to study neurobehavioral manifestations associated with the human disease adenylosuccinate lyase deficiency (ASLD). (psu.edu)
ADSL1
Adenylosuccinate lyase (or adenylosuccinase) is an enzyme that in humans is encoded by the ADSL gene. (wikipedia.org)
Enzyme2
Adenylosuccinate lyase (ASL) is an enzyme that catalyzes two reactions in the de novo purine biosynthetic pathway. (wikipedia.org)
This gene provides instructions for making an enzyme called adenylosuccinate lyase, which performs two steps in the process that produces purine nucleotides. (medlineplus.gov)
AICAR proceeds through three more reactions before it becomes adenylosuccinate (also called succinyladenosine monophosphate or SAMP), which ASL then splits into adenosine monophosphate (AMP) and fumarate. (wikipedia.org)
In the ASL-catalyzed reaction splitting adenylosuccinate into adenosine monophosphate (AMP) and fumarate, the AMP must rotate slightly after the reaction is complete and before fumarate is released in order for both products to fit in the active site. (wikipedia.org)
Adenylosuccinate lyase converts adenylosuccinate to AMP and fumarate as part of the purine nucleotide cycle. (wikipedia.org)
Fumarate1
ASL cleaves adenylosuccinate into AMP and fumarate, and cleaves SAICAR into AICAR and fumarate. (wikipedia.org)
Bacillus1
Adenylosuccinate lyase in humans and Bacillus subtilis can be competitively inhibited by the substrate analog adenosine phosphonobutyric acid 2'(3'), 5'-diphosphate (APBADP). (wikipedia.org)
Enzymatic1
Understanding the structurel experience involving enzymatic conformations for adenylosuccinate lyase receptor in malarial parasite Plasmodium falciparum. (alksignaling.com)
Reaction1
Adenylosuccinate lyase is part of the β-elimination superfamily of enzymes and it proceeds through an E1cb reaction mechanism. (wikipedia.org)
Studies1
APBADP is a competitive inhibitor for both of the reactions catalyzed by adenylosuccinate lyase, and kinetic studies with APBADP show that the substrates for both reactions use the same active site. (wikipedia.org)
Activity1
Adenylosuccinate lyase mutants can have considerably reduced activity whether the mutation is in or away from the active site. (wikipedia.org)
Synthetase3
17. Specificity of adenylosuccinate synthetase and adenylosuccinate lyase from Leishmania donovani. (nih.gov)
For the case that M. pneumoniae does not require adenine as a substrate, we suggest adenylosuccinate synthetase (EC 6.3.4.4), adenylosuccinate lyase (EC 4.3.2.2) and GMP reductase (EC 1.7.1.7) to be operative. (embl.de)
Enzymes1
Adenylosuccinate lyase is part of the β-elimination superfamily of enzymes and it proceeds through an E1cb reaction mechanism. (wikipedia.org)
Kinetic studies1
APBADP is a competitive inhibitor for both of the reactions catalyzed by adenylosuccinate lyase, and kinetic studies with APBADP show that the substrates for both reactions use the same active site. (wikipedia.org)
Adenosine4
AICAR proceeds through three more reactions before it becomes adenylosuccinate (also called succinyladenosine monophosphate or SAMP), which ASL then splits into adenosine monophosphate (AMP) and fumarate. (wikipedia.org)
Adenylosuccinate lyase in humans and Bacillus subtilis can be competitively inhibited by the substrate analog adenosine phosphonobutyric acid 2'(3'), 5'-diphosphate (APBADP). (wikipedia.org)
In the ASL-catalyzed reaction splitting adenylosuccinate into adenosine monophosphate (AMP) and fumarate, the AMP must rotate slightly after the reaction is complete and before fumarate is released in order for both products to fit in the active site. (wikipedia.org)