ASA
MCID: ARG002
MIFTS: 64

Argininosuccinic Aciduria (ASA) malady

Genetic diseases, Rare diseases categories

Summaries for Argininosuccinic Aciduria

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9Disease Ontology, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. the nervous system is especially sensitive to the effects of excess ammonia. argininosuccinic aciduria usually becomes evident in the first few days of life. an infant with argininosuccinic aciduria may be lacking in energy (lethargic) or unwilling to eat, and have poorly controlled breathing rate or body temperature. some babies with this disorder experience seizures or unusual body movements, or go into a coma. complications from argininosuccinic aciduria may include developmental delay, intellectual disability, progressive liver damage, skin lesions, and brittle hair. the condition is caused by mutations in the asl gene and is inherited in an autosomal recessive pattern. long-term management includes dietary restriction of protein and supplementation with arginine. acute crises may be treated by discontinuing oral protein intake, supplementing oral intake with intravenous lipids and/or glucose, and use of intravenous arginine and nitrogen scavenging therapy. if ammonia levels do not normalize, hemodialysis may be necessary. last updated: 4/29/2011

MalaCards: Argininosuccinic Aciduria, also known as argininosuccinate lyase deficiency, is related to urea cycle disorder and carbamoyl phosphate synthetase i deficiency disease, and has symptoms including hyperammonemia, hypotrichosis/atrichia/atrichiasis/scalp hairlessness and aminoacid metabolism anomalies/aminoaciduria. An important gene associated with Argininosuccinic Aciduria is ASL (argininosuccinate lyase), and among its related pathways are Alanine and aspartate metabolism and Alanine, aspartate and glutamate metabolism. The compounds Canavaninosuccinate and argininosuccinic acid have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and testes, and related mouse phenotypes are normal and integument.

Disease Ontology:9 An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (asa) in the blood and urine.

Wikipedia:66 Argininosuccinic aciduria, also called argininosuccinic acidemia, is an inherited disorder that causes... more...

Description from OMIM:48 207900

GeneReviews summary for args-aciduria

Aliases & Classifications for Argininosuccinic Aciduria

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9Disease Ontology, 10diseasecard, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 59SNOMED-CT, 41NCIt, 36MeSH, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Characteristics (Orphanet epidemiological data):

50
argininosuccinic aciduria:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Childhood; Age of death: Any age


Aliases & Descriptions:

argininosuccinic aciduria 9 10 44 21 22 48 11 50 63
argininosuccinate lyase deficiency 9 20 44 22 46
argininosuccinate lyase 10 21 23
asl deficiency 20 44 22
argininosuccinic acid lyase deficiency 20 44
arginosuccinase deficiency 9 22
argininosuccinic acidemia 9 22
argininosuccinicaciduria 44 22
inborn error of urea synthesis, arginino succinic type 44
urea cycle disorder, arginino succinase type 44
argininosuccinyl-coa lyase deficiency 22
deficiency of argininosuccinate lyase 9
arginino succinase deficiency 44
argininosuccinase deficiency 50
argininosuccinate acidemia 44
aciduria argininosuccinic 46
asa deficiency 44
asauria 22
asa 22


External Ids:

Disease Ontology9 DOID:14755
NCIt41 C84569
MeSH36 D056807
OMIM48 207900
SNOMED-CT59 124630007, 41013004
MESH via Orphanet37 D056807
ICD10 via Orphanet27 E72.2
SNOMED-CT via Orphanet60 41013004
UMLS via Orphanet64 C0268547

Related Diseases for Argininosuccinic Aciduria

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Argininosuccinic Aciduria:



Diseases related to argininosuccinic aciduria

Symptoms for Argininosuccinic Aciduria

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

207900

Clinical features from OMIM:

207900

Symptoms:

50 (show all 9)
  • hyperammonemia
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • aminoacid metabolism anomalies/aminoaciduria
  • short stature/dwarfism/nanism
  • storage liver disease
  • ataxia/incoordination/trouble of the equilibrium
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • eeg anomalies
  • autosomal recessive inheritance

Drugs & Therapeutics for Argininosuccinic Aciduria

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Argininosuccinic Aciduria

Search CenterWatch for Argininosuccinic Aciduria

Genetic Tests for Argininosuccinic Aciduria

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21GeneTests, 23GTR
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Genetic tests related to Argininosuccinic Aciduria:

id Genetic test Affiliating Genes
1 Argininosuccinate Lyase Deficiency21 23 ASL
2 Argininosuccinic Aciduria21

Anatomical Context for Argininosuccinic Aciduria

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34MalaCards
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MalaCards organs/tissues related to Argininosuccinic Aciduria:

34
Liver, Skin, Testes, Brain, Kidney

Animal Models for Argininosuccinic Aciduria or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Argininosuccinic Aciduria:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028738.8MID1, ASL, ASS1
2MP:00107718.2OTC, ASL, ASS1
3MP:00053868.1OTC, MID1, ASL, ASS1
4MP:00053788.0ASS1, ASL, MID1, OTC
5MP:00107687.9ASS1, ASL, MID1, OTC

Publications for Argininosuccinic Aciduria

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Sources:
53PubMed
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Articles related to Argininosuccinic Aciduria:

(show top 50)    (show all 85)
idTitleAuthorsYear
1
Argininosuccinic aciduria: from a monogenic to a complex disorder. (23306800)
2013
2
Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria. (24136197)
2013
3
Optimizing therapy for argininosuccinic aciduria. (22841516)
2012
4
Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria. (21667091)
2012
5
Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria. (22231378)
2012
6
Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond. (21312326)
2011
7
Epilepsy and argininosuccinic aciduria. (21744316)
2011
8
Argininosuccinic aciduria: clinical and biochemical phenotype findings in Malaysian children. (21329179)
2010
9
Living related liver transplant in a patient with argininosuccinic aciduria and cirrhosis: metabolic follow-up. (18367960)
2008
10
Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia. (16475226)
2006
11
Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria. (16435180)
2005
12
A mouse model of argininosuccinic aciduria: biochemical characterization. (12559843)
2003
13
Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families. (12408190)
2002
14
A novel stop codon mutation (X465Y) in the argininosuccinate lyase gene in a patient with argininosuccinic aciduria. (12512996)
2002
15
Fatal hyperammonaemia in argininosuccinic aciduria following enflurane anaesthesia. (9504797)
1998
16
Prenatal diagnosis of argininosuccinic aciduria by assay of argininosuccinate in amniotic fluid at the 12th week of gestation. (2333894)
1990
17
Argininosuccinic aciduria--an underdiagnosed cause of neonatal death? (2711176)
1989
18
Molecular basis of enzyme abnormalities in urea cycle disorders. With special reference to citrullinemia and argininosuccinic aciduria. (3440446)
1987
19
Severe liver fibrosis in argininosuccinic aciduria. (3753845)
1986
20
Anorexia and altered serotonin metabolism in a patient with argininosuccinic aciduria. (2422338)
1986
21
Rapid detection of argininosuccinic aciduria and citrullinuria by fast atom bombardment and tandem mass spectrometry. (3698313)
1986
22
High-performance liquid chromatographic assay of argininosuccinate: its application in argininosuccinic aciduria and in normal man. (3088323)
1986
23
Argininosuccinic aciduria. A developmental and biochemical case study. (6886731)
1983
24
Neonatal survival after early diagnosis and treatment of argininosuccinic aciduria. (7431187)
1980
25
Amino acid and enzyme studies of brain and other tissues in an infant with argininosuccinic aciduria. (7398094)
1980
26
Neonatal argininosuccinic aciduria-survival after early diagnosis and dietary management. (7359236)
1980
27
Argininosuccinic aciduria: prenatal studies in a family at risk. (484552)
1979
28
Argininosuccinic aciduria: assignment of the argininosuccinate lyase gene to the pter to q22 region of human chromosome 7 by bioautography. (282632)
1978
29
Protein load in argininosuccinic aciduria: thoughts on its biochemical implications. (556398)
1978
30
Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity. (174426)
1976
31
Peritoneal dialysis and exchange transfusion in a neonate with argininosuccinic aciduria. (952557)
1976
32
Amino acid levels in patients with hyperammonaemia and argininosuccinic aciduria. (4839092)
1974
33
Argininosuccinic aciduria. Report of three cases and the effect of high and reduced protein intake on the clinical state. (4136541)
1974
34
Argininosuccinic aciduria: perinatal diagnosis and early dietary management. (4850634)
1974
35
Argininosuccinate lyase levels in blood, liver and cultured fibroblasts of a patient with argininosuccinic aciduria. (4732887)
1973
36
Argininosuccinic aciduria. (4706398)
1973
37
Antenatal diagnosis of argininosuccinic aciduria. (4765206)
1973
38
The pathological findings in a case of argininosuccinic aciduria. (5173011)
1971
39
Urea production from labelled ammonia in argininosuccinic aciduria. (5790325)
1969
40
Argininosuccinic aciduria. Neonatal variant with rapid fatal course. (5365174)
1969
41
Detection of argininosuccinic aciduria by gas chromatography. (5762134)
1969
42
Argininosuccinic aciduria. A case. (4190301)
1969
43
Argininosuccinic aciduria. Report of two new cases and demonstration of intermittent elevation of blood ammonia. (6016480)
1967
44
ARGININOSUCCINIC ACIDURIA IN MONILETHRIX. (14187469)
1964
45
ARGININOSUCCINIC ACIDURIA. ARGININOSUCCINASE AND ARGINASE IN HUMAN BLOOD CELLS. (14162426)
1964
46
A familial study of a human enzyme defect, argininosuccinic aciduria. (5836520)
1964
47
Argininosuccinic aciduria and maple syrup urine disease. (13885492)
1962
48
Argininosuccinic aciduria, an inborn error of amino acid metabolism. (14464548)
1961
49
Argininosuccinic aciduria: identification and reactions of the abnormal metabolite in a newly described form of mental disease, with some preliminary metabolic studies. (13784598)
1960
50
Argininosuccinic aciduria. A new form of mental deficiency due to metabolic causes. (13815969)
1959

Variations for Argininosuccinic Aciduria

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Argininosuccinic Aciduria:

65 (show all 14)
id Symbol AA change Variation ID SNP ID
1ASLp.Arg95CysVAR_000676rs28940585
2ASLp.Arg111TrpVAR_000677
3ASLp.Arg193GlnVAR_000678
4ASLp.Gln286ArgVAR_000679rs28941472
5ASLp.Val178MetVAR_017572rs28941473
6ASLp.Arg379CysVAR_017573rs28940287
7ASLp.Arg385CysVAR_017574rs28940286
8ASLp.Asp31AsnVAR_043106
9ASLp.Arg113GlnVAR_043107
10ASLp.Arg186GlnVAR_043108
11ASLp.Arg236TrpVAR_043109
12ASLp.Val335LeuVAR_043110
13ASLp.Met382ArgVAR_043111
14ASLp.Arg456TrpVAR_043112

Clinvar genetic disease variations for Argininosuccinic Aciduria:

1
id Gene Name Type Significance SNP ID Assembly Location
1ASLNM_000048.3(ASL): c.1060C> T (p.Gln354Ter)single nucleotide variantPathogenicrs367543005GRCh37Chr 7, 65554680: 65554680
2ASLNM_000048.3(ASL): c.346C> T (p.Gln116Ter)single nucleotide variantPathogenicrs367543006GRCh37Chr 7, 65547921: 65547921
3ASLNM_000048.3(ASL): c.283C> T (p.Arg95Cys)single nucleotide variantPathogenicrs28940585GRCh37Chr 7, 65547430: 65547430
4ASLNM_000048.3(ASL): c.857A> G (p.Gln286Arg)single nucleotide variantPathogenicrs28941472GRCh37Chr 7, 65554101: 65554101
5ASLASL, IVS5, G-A, +1single nucleotide variantPathogenic
6ASLNM_000048.3(ASL): c.1153C> T (p.Arg385Cys)single nucleotide variantPathogenicrs28940286GRCh37Chr 7, 65557553: 65557553
7ASLNM_000048.3(ASL): c.532G> A (p.Val178Met)single nucleotide variantPathogenicrs28941473GRCh37Chr 7, 65551738: 65551738
8ASLNM_000048.3(ASL): c.1135C> T (p.Arg379Cys)single nucleotide variantPathogenicrs28940287GRCh37Chr 7, 65557065: 65557065

Expression for genes affiliated with Argininosuccinic Aciduria

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Argininosuccinic Aciduria

Search GEO for disease gene expression data for Argininosuccinic Aciduria.

Pathways for genes affiliated with Argininosuccinic Aciduria

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51PathCards, 39NCBI BioSystems Database, 31KEGG, 56Reactome, 52PharmGKB
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Pathways related to Argininosuccinic Aciduria according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3ASL, ASS1
29.3ASL, ASS1
3
Show member pathways
8.5OTC, ASL, ASS1
4
Show member pathways
creatine-phosphate biosynthesis39
glycine degradation (creatine biosynthesis)39
putrescine biosynthesis III39
spermidine biosynthesis I39
tryptophan degradation via kynurenine39
spermine biosynthesis39
urea cycle39
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I39
tyrosine degradation I39
L-carnitine biosynthesis39
methylthiopropionate biosynthesis39
2-oxoglutarate decarboxylation to succinyl-CoA39
S-methyl-5-thioadenosine degradation II39
8.5ASS1, ASL, OTC
5
Show member pathways
citrulline-nitric oxide cycle39
arginine degradation I (arginase pathway)39
proline degradation39
glutamine degradation I39
proline biosynthesis I39
superpathway of citrulline metabolism39
proline biosynthesis II (from arginine)39
citrulline biosynthesis39
arginine degradation VI (arginase 2 pathway)39
Urea cycle and metabolism of amino groups39
asparagine biosynthesis I39
4-hydroxyproline degradation I39
citrulline degradation39
8.5ASS1, ASL, OTC
6
Show member pathways
L-serine degradation39
pentose phosphate pathway (oxidative branch)39
formaldehyde oxidation II (glutathione-dependent)39
8.5OTC, ASL, ASS1
7
Show member pathways
glutamate biosynthesis II39
arginine biosynthesis IV39
8.5OTC, ASL, ASS1

Compounds for genes affiliated with Argininosuccinic Aciduria

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25HMDB, 46Novoseek, 30IUPHAR, 12DrugBank, 52PharmGKB, 3BitterDB
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Compounds related to Argininosuccinic Aciduria according to GeneCards/GeneDecks:

(show all 27)
idCompoundScoreTop Affiliating Genes
1Canavaninosuccinate259.7ASL, ASS1
2argininosuccinic acid46 2510.7ASL, ASS1
3guanidinoacetate469.6ASL, ASS1
4l-arginine30 25 1211.6ASL, ASS1
5n-acetylglutamate469.5OTC, ASL
6sodium phenylbutyrate529.4ASS1, OTC
7malate469.4OTC, ASL
8delta(1)pyrroline-5-carboxylate469.3OTC, ASS1
9Adenosine monophosphate25 1210.3ASS1, MID1
10l-citrulline30 1210.3ASS1, OTC
11phosphoenolpyruvate46 1210.2OTC, ASS1
12phosphoric acid46 2510.2MID1, ASS1
13glutamine469.1OTC, ASL
14pyruvate469.1OTC, ASS1
15pyrophosphate46 2510.0MID1, ASS1
16sodium benzoate52 39.9OTC, ASL, ASS1
17phenylacetic acid52 46 2510.9ASS1, ASL, OTC
18carbamoyl phosphate468.9OTC, ASL, ASS1
19ammonium468.9ASS1, ASL, OTC
20citrulline46 259.9OTC, ASL, ASS1
21ornithine46 259.8OTC, ASL, ASS1
22urea46 25 1210.8ASS1, ASL, OTC
23creatinine468.8OTC, ASL, ASS1
24aspartate468.8ASS1, ASL, OTC
25arginine468.7OTC, ASL, ASS1
26nitric oxide46 25 1210.7ASS1, ASL, OTC
27glutamate468.6OTC, ASL, ASS1

GO Terms for genes affiliated with Argininosuccinic Aciduria

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17Gene Ontology
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Biological processes related to Argininosuccinic Aciduria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1arginine biosynthetic processGO:0065268.9OTC, ASS1
2urea cycleGO:0000508.5OTC, ASL, ASS1
3small molecule metabolic processGO:0442818.5OTC, ASL, ASS1
4cellular nitrogen compound metabolic processGO:0346418.2ASS1, ASL, OTC

Products for genes affiliated with Argininosuccinic Aciduria

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Argininosuccinic Aciduria

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet