ASA
MCID: ARG002
MIFTS: 65

Argininosuccinic Aciduria (ASA) malady

Genetic diseases, Rare diseases, Metabolic diseases categories
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Summaries for Argininosuccinic Aciduria

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NIH Rare Diseases:42 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 based summary: 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 aminoacid metabolism anomalies/aminoaciduria, autosomal recessive inheritance and storage liver disease. 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:8 An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (asa) in the blood and urine.

Genetics Home Reference:21 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.

Wikipedia:65 Argininosuccinic aciduria, also called argininosuccinic acidemia, is an inherited disorder that causes... more...

Description from OMIM:46 207900

GeneReviews summary for args-aciduria

Aliases & Classifications for Argininosuccinic Aciduria

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 46OMIM, 10DISEASES, 48Orphanet, 62UMLS, 19GeneReviews, 44Novoseek, 22GTR, 57SNOMED-CT, 39NCIt, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Argininosuccinic Aciduria, Aliases & Descriptions:

Name: Argininosuccinic Aciduria 8 9 42 20 21 46 10 48 62
Argininosuccinate Lyase Deficiency 8 19 42 21 44 62
Argininosuccinic Acid Lyase Deficiency 19 42 62
Arginosuccinase Deficiency 8 21 62
Argininosuccinic Acidemia 8 21 62
Argininosuccinate Lyase 9 20 22
Asl Deficiency 19 42 21
Deficiency of Argininosuccinate Lyase 8 62
Argininosuccinyl-Coa Lyase Deficiency 21 62
Arginino Succinase Deficiency 42 62
 
Argininosuccinase Deficiency 48 62
Argininosuccinate Acidemia 42 62
Argininosuccinicaciduria 42 21
Asa Deficiency 42 62
Asauria 21 62
Inborn Error of Urea Synthesis, Arginino Succinic Type 42
Urea Cycle Disorder, Arginino Succinase Type 42
Aciduria Argininosuccinic 44
Asa 21


Classifications:



Characteristics (Orphanet epidemiological data):

48
argininosuccinic aciduria:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Childhood; Age of death: Any age


External Ids:

Disease Ontology8 DOID:14755
OMIM46 207900
NCIt39 C84569
MeSH34 D056807
SNOMED-CT57 41013004, 124630007
MESH via Orphanet35 D056807
ICD10 via Orphanet26 E72.2
UMLS via Orphanet63 C0268547

Related Diseases for Argininosuccinic Aciduria

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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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Symptoms by clinical synopsis from OMIM:

207900

Clinical features from OMIM:

207900

Symptoms:

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

HPO human phenotypes related to Argininosuccinic Aciduria:

(show all 32)
id Description Frequency HPO Source Accession
1 aminoaciduria hallmark (90%) HP:0003355
2 hyperammonemia typical (50%) HP:0001987
3 incoordination typical (50%) HP:0002311
4 eeg abnormality typical (50%) HP:0002353
5 short stature typical (50%) HP:0004322
6 cognitive impairment typical (50%) HP:0100543
7 abnormal hair quantity occasional (7.5%) HP:0011362
8 autosomal recessive inheritance HP:0000007
9 irritability HP:0000737
10 intellectual disability HP:0001249
11 seizures HP:0001250
12 ataxia HP:0001251
13 lethargy HP:0001254
14 coma HP:0001259
15 global developmental delay HP:0001263
16 hepatic fibrosis HP:0001395
17 failure to thrive HP:0001508
18 respiratory alkalosis HP:0001950
19 episodic ammonia intoxication HP:0001951
20 hyperammonemia HP:0001987
21 vomiting HP:0002013
22 protein avoidance HP:0002038
23 cerebral edema HP:0002181
24 hepatomegaly HP:0002240
25 hyperglutaminemia HP:0003217
26 oroticaciduria HP:0003218
27 aminoaciduria HP:0003355
28 neonatal onset HP:0003623
29 hypoargininemia HP:0005961
30 feeding difficulties in infancy HP:0008872
31 trichorrhexis nodosa HP:0009886
32 dry hair HP:0011359

Drugs & Therapeutics for Argininosuccinic Aciduria

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Drug clinical trials:

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Search NIH Clinical Center for Argininosuccinic Aciduria

Genetic Tests for Argininosuccinic Aciduria

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Genetic tests related to Argininosuccinic Aciduria:

id Genetic test Affiliating Genes
1 Argininosuccinate Lyase Deficiency20 22 ASL
2 Argininosuccinic Aciduria20

Anatomical Context for Argininosuccinic Aciduria

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MalaCards organs/tissues related to Argininosuccinic Aciduria:

32
Liver, Skin, Testes, Brain, Kidney

Animal Models for Argininosuccinic Aciduria or affiliated genes

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MGI Mouse Phenotypes related to Argininosuccinic Aciduria:

36
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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Articles related to Argininosuccinic Aciduria:

(show top 50)    (show all 85)
idTitleAuthorsYear
1
Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria. (24136197)
2013
2
Optimizing therapy for argininosuccinic aciduria. (22841516)
2012
3
Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria. (21667091)
2012
4
Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria. (22231378)
2012
5
Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond. (21312326)
2011
6
Epilepsy and argininosuccinic aciduria. (21744316)
2011
7
Argininosuccinic aciduria: clinical and biochemical phenotype findings in Malaysian children. (21329179)
2010
8
Living related liver transplant in a patient with argininosuccinic aciduria and cirrhosis: metabolic follow-up. (18367960)
2008
9
Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia. (16475226)
2006
10
Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria. (16435180)
2005
11
A mouse model of argininosuccinic aciduria: biochemical characterization. (12559843)
2003
12
Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families. (12408190)
2002
13
A novel stop codon mutation (X465Y) in the argininosuccinate lyase gene in a patient with argininosuccinic aciduria. (12512996)
2002
14
Fatal hyperammonaemia in argininosuccinic aciduria following enflurane anaesthesia. (9504797)
1998
15
Prenatal diagnosis of argininosuccinic aciduria by assay of argininosuccinate in amniotic fluid at the 12th week of gestation. (2333894)
1990
16
Argininosuccinic aciduria--an underdiagnosed cause of neonatal death? (2711176)
1989
17
Molecular basis of enzyme abnormalities in urea cycle disorders. With special reference to citrullinemia and argininosuccinic aciduria. (3440446)
1987
18
Severe liver fibrosis in argininosuccinic aciduria. (3753845)
1986
19
Anorexia and altered serotonin metabolism in a patient with argininosuccinic aciduria. (2422338)
1986
20
Rapid detection of argininosuccinic aciduria and citrullinuria by fast atom bombardment and tandem mass spectrometry. (3698313)
1986
21
High-performance liquid chromatographic assay of argininosuccinate: its application in argininosuccinic aciduria and in normal man. (3088323)
1986
22
Argininosuccinic aciduria. A developmental and biochemical case study. (6886731)
1983
23
Neonatal survival after early diagnosis and treatment of argininosuccinic aciduria. (7431187)
1980
24
Amino acid and enzyme studies of brain and other tissues in an infant with argininosuccinic aciduria. (7398094)
1980
25
Neonatal argininosuccinic aciduria-survival after early diagnosis and dietary management. (7359236)
1980
26
Prenatal diagnosis of argininosuccinic aciduria: effect of mycoplasma contamination on the indirect assay for argininosuccinate lyase. (7424915)
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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UniProtKB/Swiss-Prot genetic disease variations for Argininosuccinic Aciduria:

64 (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:

6
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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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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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 biosynthesis37
glycine degradation (creatine biosynthesis)37
putrescine biosynthesis III37
spermidine biosynthesis I37
tryptophan degradation via kynurenine37
spermine biosynthesis37
urea cycle37
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I37
tyrosine degradation I37
L-carnitine biosynthesis37
methylthiopropionate biosynthesis37
2-oxoglutarate decarboxylation to succinyl-CoA37
S-methyl-5-thioadenosine degradation II37
8.5ASS1, ASL, OTC
5
Show member pathways
citrulline-nitric oxide cycle37
arginine degradation I (arginase pathway)37
proline degradation37
glutamine degradation I37
proline biosynthesis I37
superpathway of citrulline metabolism37
proline biosynthesis II (from arginine)37
citrulline biosynthesis37
arginine degradation VI (arginase 2 pathway)37
Urea cycle and metabolism of amino groups37
asparagine biosynthesis I37
4-hydroxyproline degradation I37
citrulline degradation37
8.5ASS1, ASL, OTC
6
Show member pathways
L-serine degradation37
pentose phosphate pathway (oxidative branch)37
formaldehyde oxidation II (glutathione-dependent)37
8.5OTC, ASL, ASS1
7
Show member pathways
glutamate biosynthesis II37
arginine biosynthesis IV37
8.5OTC, ASL, ASS1

Compounds for genes affiliated with Argininosuccinic Aciduria

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Sources:
24HMDB, 44Novoseek, 28IUPHAR, 11DrugBank, 50PharmGKB, 2BitterDB
See all sources

Compounds related to Argininosuccinic Aciduria according to GeneCards/GeneDecks:

(show all 27)
idCompoundScoreTop Affiliating Genes
1Canavaninosuccinate249.7ASL, ASS1
2argininosuccinic acid44 2410.7ASL, ASS1
3guanidinoacetate449.6ASL, ASS1
4l-arginine28 24 1111.6ASL, ASS1
5n-acetylglutamate449.5OTC, ASL
6sodium phenylbutyrate509.4ASS1, OTC
7malate449.4OTC, ASL
8delta(1)pyrroline-5-carboxylate449.3OTC, ASS1
9Adenosine monophosphate24 1110.3ASS1, MID1
10l-citrulline28 1110.3ASS1, OTC
11phosphoenolpyruvate44 1110.2OTC, ASS1
12phosphoric acid44 2410.2MID1, ASS1
13glutamine449.1OTC, ASL
14pyruvate449.1OTC, ASS1
15pyrophosphate44 2410.0MID1, ASS1
16sodium benzoate50 29.9OTC, ASL, ASS1
17phenylacetic acid50 44 2410.9ASS1, ASL, OTC
18carbamoyl phosphate448.9OTC, ASL, ASS1
19ammonium448.9ASS1, ASL, OTC
20citrulline44 249.9OTC, ASL, ASS1
21ornithine44 249.8OTC, ASL, ASS1
22urea44 24 1110.8ASS1, ASL, OTC
23creatinine448.8OTC, ASL, ASS1
24aspartate448.8ASS1, ASL, OTC
25arginine448.7OTC, ASL, ASS1
26nitric oxide44 24 1110.7ASS1, ASL, OTC
27glutamate448.6OTC, ASL, ASS1

GO Terms for genes affiliated with Argininosuccinic Aciduria

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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

Sources for Argininosuccinic Aciduria

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet