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Adenylosuccinate lyase deficiency

A rare hereditary autosomal recessive neurological disorder that is caused by a deficiency of the adenylosuccinate lyase enzyme. The neonatal form is most severe and affected individuals exhibit impaired growth in utero, inability to move, MICROCEPHALY; RESPIRATORY INSUFFICIENCY; SEIZURES and death within a few weeks after birth. Individuals with type 1 deficiency exhibit severe psychomotor delay, HYPOTONIA, microcephaly, seizures, and autistic behavior within the first months of life. Type II insufficiency is less severe and affected individuals exhibit a mild psychomotor delay, and in some cases seizures and autistic behavior beginning after the first few years of life. Mutations in the ADSL gene have been identified. OMIM: 103050
Also Known As:
ADSL Deficiency; Adenylosuccinase deficiency; Adenylosuccinate lyase deficiency type 1; Adenylosuccinate lyase deficiency type 2; Adenylosuccinate lyase deficiency type 3; Adenylosuccinate lyase deficiency type 4; Succinylpurinemic autism
Networked: 51 relevant articles (0 outcomes, 1 trials/studies)

Bio-Agent Context: Research Results

Experts

1. Jurecka, Agnieszka: 3 articles (02/2014 - 08/2008)
2. Kmoch, S: 3 articles (12/2008 - 06/2000)
3. Krijt, J: 3 articles (12/2008 - 06/2000)
4. Zikánová, Marie: 2 articles (01/2022 - 01/2007)
5. Duley, John A: 2 articles (08/2014 - 11/2013)
6. Tylki-Szymańska, Anna: 2 articles (02/2014 - 05/2012)
7. Zikanova, Marie: 2 articles (02/2014 - 08/2008)
8. Artuch, Rafael: 2 articles (07/2012 - 02/2010)
9. Campistol, Jaume: 2 articles (07/2012 - 02/2010)
10. Merinero, Begoña: 2 articles (07/2012 - 02/2010)

Related Diseases

1. Seizures (Absence Seizure)
2. Epilepsy (Aura)
3. Intellectual Disability (Idiocy)
4. Brain Diseases (Brain Disorder)
5. Phenylketonurias (Phenylketonuria)
02/01/2010 - "We found seven patients with IEM [three with cerebral Cr deficiency syndromes (CCDS)], one with adenylosuccinate lyase (ADSL) deficiency, and three, born before the neonatal metabolic screening program in Catalonia, with phenylketonuria (PKU). "
10/01/2000 - "These include phenylketonuria, histidinemia, adenylosuccinate lyase deficiency, dihydropyrimidine dehydrogenase deficiency, 5'-nucleotidase superactivity, and phosphoribosylpyrophosphate synthetase deficiency. "
02/01/2005 - "This paper describes several genetic diseases consistently associated with autism (fragile X, tuberous sclerosis, Angelman syndrome, duplication of 15q11-q13, Down syndrome, San Filippo syndrome, MECP2 related disorders, phenylketonuria, Smith-Magenis syndrome, 22q13 deletion, adenylosuccinate lyase deficiency, Cohen syndrome, and Smith-Lemli-Opitz syndrome) and proposes a consensual and economic diagnostic strategy to help practitioners to identify them. "
01/01/2022 - "We show that across 539 plasma samples, CTD-based network-quantified measures can reproduce accurate diagnosis of 16 different IEMs, including adenylosuccinase deficiency, argininemia, argininosuccinic aciduria, aromatic L-amino acid decarboxylase deficiency, cerebral creatine deficiency syndrome type 2, citrullinemia, cobalamin biosynthesis defect, GABA-transaminase deficiency, glutaric acidemia type 1, maple syrup urine disease, methylmalonic aciduria, ornithine transcarbamylase deficiency, phenylketonuria, propionic acidemia, rhizomelic chondrodysplasia punctata, and the Zellweger spectrum disorders. "
01/01/2021 - "Increasing evidence suggests that the autism spectrum disorder (ASD) may be associated with inborn errors of metabolism, such as disorders of amino acid metabolism and transport [phenylketonuria, homocystinuria, S-adenosylhomocysteine hydrolase deficiency, branched-chain α-keto acid dehydrogenase kinase deficiency, urea cycle disorders (UCD), Hartnup disease], organic acidurias (propionic aciduria, L-2 hydroxyglutaric aciduria), cholesterol biosynthesis defects (Smith-Lemli-Opitz syndrome), mitochondrial disorders (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes-MELAS syndrome), neurotransmitter disorders (succinic semialdehyde dehydrogenase deficiency), disorders of purine metabolism [adenylosuccinate lyase (ADSL) deficiency, Lesch-Nyhan syndrome], cerebral creatine deficiency syndromes (CCDSs), disorders of folate transport and metabolism (cerebral folate deficiency, methylenetetrahydrofolate reductase deficiency), lysosomal storage disorders [Sanfilippo syndrome, neuronal ceroid lipofuscinoses (NCL), Niemann-Pick disease type C], cerebrotendinous xanthomatosis (CTX), disorders of copper metabolism (Wilson disease), disorders of haem biosynthesis [acute intermittent porphyria (AIP)] and brain iron accumulation diseases. "

Related Drugs and Biologics

1. purine
2. Adenylosuccinate Lyase
3. succinyladenosine
4. Creatine
5. Amino Acids
6. Adenine Phosphoribosyltransferase
7. Acids
8. beta-apocarotenoid-14',13'-dioxygenase (ADO)
9. SAICAR
10. Xanthine

Related Therapies and Procedures

1. Ketogenic Diet
2. Therapeutics