MCID: ADN023
MIFTS: 21

Adenylosuccinate Lyase Deficiency malady

Summaries for Adenylosuccinate Lyase Deficiency

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64Wikipedia, 33MalaCards
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Wikipedia:64 Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is a rare autosomal... more...

MalaCards: Adenylosuccinate Lyase Deficiency is related to adenylosuccinase deficiency and adenylosuccinase lyase deficiency. An important gene associated with Adenylosuccinate Lyase Deficiency is ADSL (adenylosuccinate lyase). Affiliated tissues include brain, ovary and fetal brain.

Aliases & Classifications for Adenylosuccinate Lyase Deficiency

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64Wikipedia, 22GTR, 61UMLS
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Aliases & Descriptions:

adenylosuccinate lyase deficiency 64 22 61


Related Diseases for Adenylosuccinate Lyase Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to Adenylosuccinate Lyase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1adenylosuccinase deficiency10.6
2adenylosuccinase lyase deficiency10.3
3hypotonia10.3

Clinical Features for Adenylosuccinate Lyase Deficiency

Drugs & Therapeutics for Adenylosuccinate Lyase Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Adenylosuccinate Lyase Deficiency

Genetic Tests for Adenylosuccinate Lyase Deficiency

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22GTR
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Genetic tests related to Adenylosuccinate Lyase Deficiency:

id Genetic test Affiliating Genes
1 Adenylosuccinate Lyase Deficiency22

Anatomical Context for Adenylosuccinate Lyase Deficiency

Sources:
33MalaCards
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MalaCards organs/tissues related to Adenylosuccinate Lyase Deficiency:

33
Brain, Ovary, Fetal brain

Animal Models for Adenylosuccinate Lyase Deficiency or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Adenylosuccinate Lyase Deficiency

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51PubMed
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Articles related to Adenylosuccinate Lyase Deficiency:

(show all 45)
idTitleAuthorsYear
1
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. (23937257)
2013
2
Attenuated Adenylosuccinate Lyase Deficiency: A Report of One Case and a Review of the Literature. (23504561)
2013
3
Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency. (23055421)
2013
4
The need for vigilance: false-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers. (24183879)
2013
5
Novel features in the evolution of adenylosuccinate lyase deficiency. (21903433)
2012
6
Structural and biochemical characterization of human adenylosuccinate lyase (ADSL) and the R303C ADSL deficiency-associated mutation. (22812634)
2012
7
Neurologic presentation, diagnostics, and therapeutic insights in a severe case of adenylosuccinate lyase deficiency. (22140128)
2012
8
Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature. (21625931)
2012
9
Progress Towards Simple and Direct Detection of Adenylosuccinate Lyase Deficiency in Human Urine. (22719107)
2011
10
Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: a cellular model of adenylosuccinate lyase deficiency. (20884265)
2011
11
In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency. (20175147)
2010
12
Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations. (20177786)
2010
13
Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency. (20127976)
2010
14
Adenylosuccinate lyase deficiency in the United Kingdom pediatric population: first three cases. (20933180)
2010
15
Severe encephalopathy with brain atrophy and hypomyelination due to adenylosuccinate lyase deficiency--MRI, clinical, biochemical and neuropathological findings of Polish patients. (20054783)
2009
16
Misleading behavioural phenotype with adenylosuccinate lyase deficiency. (18830228)
2009
17
D-ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: absence of positive effect. (18649008)
2008
18
Adenylosuccinate lyase deficiency: an unusual cause of neonatal seizure]. (18201882)
2008
19
Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency. (18524658)
2008
20
Adenylosuccinate lyase deficiency: the first identified polish patient. (17485188)
2007
21
Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families. (17188615)
2007
22
Adenylosuccinate lyase deficiency. (16839792)
2006
23
Preparation of 5-amino-4-imidazole-N-succinocarboxamide ribotide, 5-amino-4-imidazole-N-succinocarboxamide riboside and succinyladenosine, compounds usable in diagnosis and research of adenylosuccinate lyase deficiency. (15902552)
2005
24
Adenylosuccinate lyase deficiency: study of physiopathologic mechanism(s). (15571234)
2004
25
Biochemical and molecular genetic correlation in adenylosuccinate lyase deficiency. (15571240)
2004
26
Adenylosuccinate lyase deficiency--first British case. (15571235)
2004
27
Characterization of a mutant Bacillus subtilis adenylosuccinate lyase equivalent to a mutant enzyme found in human adenylosuccinate lyase deficiency: asparagine 276 plays an important structural role. (12590570)
2003
28
Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients. (12833398)
2003
29
Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients. (12368987)
2002
30
Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency? (12070256)
2002
31
Mutation of a nuclear respiratory factor 2 binding site in the 5' untranslated region of the ADSL gene in three patients with adenylosuccinate lyase deficiency. (12016589)
2002
32
Neurologic aspects of adenylosuccinate lyase deficiency. (11392513)
2001
33
Adenylosuccinate lyase deficiency: from the clinics to molecular biology. (11783532)
2000
34
Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients. (10888601)
2000
35
Prenatal diagnosis in adenylosuccinate lyase deficiency. (10701848)
2000
36
Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency. (10958654)
2000
37
Effect of uridine administration to a patient with adenylosuccinate lyase deficiency. (11783531)
2000
38
Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence. (10090474)
1999
39
First U.S. case of adenylosuccinate lyase deficiency with severe hypotonia. (9165520)
1997
40
Failure of muscle energy metabolism in a patient with adenylosuccinate lyase deficiency. An in vivo study by phosphorus NMR spectroscopy. (9197470)
1997
41
Adenylosuccinate lyase deficiency and disorders of saccharide metabolism; experience with combined screening test. (8737603)
1996
42
Capillary electrophoresis for screening of adenylosuccinate lyase deficiency. (8586067)
1995
43
A new diagnostic technique for adenylosuccinate lyase deficiency. (7474894)
1995
44
Adenylosuccinate lyase deficiency: an update. (7660929)
1994
45
Adenylosuccinate lyase deficiency in a Czech girl and two siblings. (7660930)
1994

Genetic Variations for Adenylosuccinate Lyase Deficiency

Expression for genes affiliated with Adenylosuccinate Lyase Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Adenylosuccinate Lyase Deficiency

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Pathways for genes affiliated with Adenylosuccinate Lyase Deficiency

Compounds for genes affiliated with Adenylosuccinate Lyase Deficiency

GO Terms for genes affiliated with Adenylosuccinate Lyase Deficiency

Products for genes affiliated with Adenylosuccinate Lyase Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Adenylosuccinate Lyase Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet