Adenylosuccinate lyase deficiency

A disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.



Input patient's signs and symptoms


Narrow down the case reports



Total: 23 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(11.2%)		 22140128
 Neurologic presentation, diagnostics, and therapeutic insights in a severe case of adenylosuccinate lyase deficiency.
Jurecka A, Opoka-Winiarska V, Rokicki D, Tylki-Szymanska A.
J Child Neurol. 2012;27(5):645-9.
Seizure Hyperchloremic acidosis
ADSL
p|SUB|D|215|H p|SUB|I|351|T
Autistic Disorder Child Epilepsy Females Homo sapiens Ketogenic Diet Longitudinal Studies Magnetic Resonance Imaging Mutation Purine-Pyrimidine Metabolism, Inborn Errors
1
(11.2%)		 9553952
 Adenylosuccinase deficiency with neonatal onset severe epileptic seizures and sudden death.
van den Bergh FA, Bosschaart AN, Hageman G, Duran M, Tien Poll-The B.
Neuropediatrics. 1998;29(1):51-3.
Seizure Fever
ADSL
Aminoimidazole Carboxamide Anticonvulsants Epilepsy Homo sapiens Infant, Newborn Male Purine-Pyrimidine Metabolism, Inborn Errors Ribonucleotides
3
(5.0%)		 30510607
(6260459)
 MRI findings of hypomyelination in adenylosuccinate lyase deficiency.
Kayfan S, Yazdani RM, Castillo S, Wong K, Miller JH, Pfeifer CM.
Radiol Case Rep. 2019;14(2):255-259.
Seizure
ADSL
3
(5.0%)		 28768552
(5541734)
 A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing.
Macchiaiolo M, Barresi S, Cecconi F, Zanni G, Niceta M, Bellacchio E, Lazzarino G, Amorini AM, Bertini ES, Rizza S, Contardi B, Tartaglia M, Bartuli A.
Ital J Pediatr. 2017;43(1):65.
Microcephaly
ADSL
Autistic Disorder Child Developmental Disabilities Epilepsy Females Follow-Up Studies Homo sapiens Magnetic Resonance Imaging Purine-Pyrimidine Metabolism, Inborn Errors Rare Diseases Severity of Illness Index Whole Exome Sequencing
3
(5.0%)		 23937257
 Early diagnosis of adenylosuccinate lyase deficiency using a high-throughput screening method and a trial of oral S-adenosyl-l-methionine as a treatment method.
van Werkhoven MA, Duley JA, McGown I, Munce T, Freeman JL, Pitt JJ.
Dev Med Child Neurol. 2013;55(11):1060-4.
Seizure
c|DUP|889_891|AAT| c|SUB|T|-49|C
Administration, Oral Autistic Disorder Child, Preschool Electroencephalography Genotype High-Throughput Screening Assays Homo sapiens Liquid Chromatography Longitudinal Studies Male Mutation Purine-Pyrimidine Metabolism, Inborn Errors Spectrometry, Mass, Electrospray Ionization
3
(5.0%)		 23504561
 Attenuated adenylosuccinate lyase deficiency: a report of one case and a review of the literature.
Jurecka A, Zikanova M, Jurkiewicz E, Tylki-Szymanska A.
Neuropediatrics. 2014;45(1):50-5.
Seizure
p|SUB|D|268|H p|SUB|R|426|H rs119450941
Autistic Disorder Child Disease Progression Females Follow-Up Studies Homo sapiens Purine-Pyrimidine Metabolism, Inborn Errors
3
(5.0%)		 23055421
(5025321)
 Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency.
Zulfiqar M, Lin DD, Van der Graaf M, Barker PB, Fahrner JA, Marie S, Morava E, De Boer L, Willemsen MA, Vining E, Horska A, Engelke U, Wevers RA, Maegawa GH.
J Magn Reson Imaging. 2013;37(4):974-80.
Microcephaly
ADSL
c|SUB|G|IVS12+1|C
Aminoimidazole Carboxamide Autistic Disorder Brain DNA Mutational Analysis Developmental Disabilities Females Homo sapiens Image Enhancement Image Interpretation, Computer-Assisted Infant Magnetic Resonance Spectroscopy Male Psychomotor Disorders Purine-Pyrimidine Metabolism, Inborn Errors Ribonucleosides
3
(5.0%)		 21903433
 Novel features in the evolution of adenylosuccinate lyase deficiency.
Perez-Duenas B, Sempere A, Campistol J, Alonso-Colmenero I, Diez M, Gonzalez V, Merinero B, Desviat LR, Artuch R.
Eur J Paediatr Neurol. 2012;16(4):343-8.
Seizure
ADSL
p|SUB|I|369|L p|SUB|M|389|V;RS#:763475264
Autistic Disorder Brain Child Child Behavior Disorders Child, Preschool Cognition Disorders Epilepsy Epilepsy, Reflex Females Fever Homo sapiens Magnetic Resonance Imaging Male Movement Disorders Muscle Spasticity Neuropsychological Tests Purine-Pyrimidine Metabolism, Inborn Errors Quadriplegia Special Education
3
(5.0%)		 20177786
 Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations.
Chen BC, McGown IN, Thong MK, Pitt J, Yunus ZM, Khoo TB, Ngu LH, Duley JA.
J Inherit Metab Dis. 2010;33 Suppl 3:S159-62.
Microcephaly
ADSL
c|INS|774_778|G c|SUB|C|445|G;RS#:780482118 p|FS|A|260|G|24 p|SUB|R|149|G;RS#:780482118
Aminoimidazole Carboxamide Autistic Disorder Biological Markers Child Development DNA Mutational Analysis Genetic Predisposition to Disease Heterozygote Homo sapiens Infant Infant, Newborn Malaysia Male Mutation Myoclonus Phenotype Predictive Value of Tests Psychomotor Disorders Psychomotor Performance Purine-Pyrimidine Metabolism, Inborn Errors Ribonucleosides Seizures Spectrometry, Mass, Electrospray Ionization Tandem Mass Spectrometry
3
(5.0%)		 20175147
 In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency.
Henneke M, Dreha-Kulaczewski S, Brockmann K, van der Graaf M, Willemsen MA, Engelke U, Dechent P, Heerschap A, Helms G, Wevers RA, Gartner J.
NMR Biomed. 2010;23(5):441-5.
Behavioral abnormality
ADSL
rs119450941
Aminoimidazole Carboxamide Child Child, Preschool Females Homo sapiens Hydrogen-Ion Concentration Infant Infant, Newborn Magnetic Resonance Imaging Magnetic Resonance Spectroscopy Male Protons Purine-Pyrimidine Metabolism, Inborn Errors Ribonucleotides
        

Phenotype(s) retrieved from Orphanet

    Total: 17

HPO ID Term Frequency
HP:0000219 Thin upper lip vermilion Very frequent (99-80%)
HP:0000248 Brachycephaly Very frequent (99-80%)
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000319 Smooth philtrum Very frequent (99-80%)
HP:0000343 Long philtrum Very frequent (99-80%)
HP:0000369 Low-set ears Very frequent (99-80%)
HP:0000463 Anteverted nares Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001250 Seizures Very frequent (99-80%)
HP:0001290 Generalized hypotonia Very frequent (99-80%)
HP:0001344 Absent speech Very frequent (99-80%)
HP:0001999 Abnormal facial shape Very frequent (99-80%)
HP:0003196 Short nose Very frequent (99-80%)
HP:0005469 Flat occiput Very frequent (99-80%)
HP:0005487 Prominent metopic ridge Very frequent (99-80%)
HP:0007103 Hypointensity of cerebral white matter on MRI Very frequent (99-80%)
HP:0011344 Severe global developmental delay Very frequent (99-80%)


Phenotype(s) retrieved from case reports

    Total: 4

HPO ID Term # of case reports
HP:0001250 Seizures 4
HP:0001298 Encephalopathy 3
HP:0002375 Hypokinesia 1
HP:0025356 Psychomotor retardation 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
ADSL adenylosuccinate lyase 158