MCID: ARG002
MIFTS: 59

Argininosuccinic Aciduria malady

Genetic diseases, Rare diseases, Metabolic diseases categories

Aliases & Classifications for Argininosuccinic Aciduria

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 55SNOMED-CT, 33MeSH, 38NCIt, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Argininosuccinic Aciduria, Aliases & Descriptions:

Name: Argininosuccinic Aciduria 45 9 10 41 20 21 11 47 60
Argininosuccinate Lyase Deficiency 9 19 41 21 43
Argininosuccinate Lyase 10 20 22
Asl Deficiency 19 41 21
Argininosuccinic Acid Lyase Deficiency 19 41
Argininosuccinase Deficiency 41 47
Arginosuccinase Deficiency 9 21
Argininosuccinic Acidemia 9 21
Argininosuccinicaciduria 41 21
Inborn Error of Urea Synthesis, Arginino Succinic Type 41
 
Urea Cycle Disorder, Arginino Succinase Type 41
Argininosuccinyl-Coa Lyase Deficiency 21
Deficiency of Argininosuccinate Lyase 9
Arginino Succinase Deficiency 41
Argininosuccinate Acidemia 41
Aciduria Argininosuccinic 43
Asa Deficiency 41
Citrullinemia 60
Asauria 21
Asa 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
argininosuccinic aciduria:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Finland),1-9/1000000 (Europe); Age of onset: Childhood; Age of death: any age


External Ids:

OMIM45 207900
Disease Ontology9 DOID:14755
MeSH33 D056807
NCIt38 C84569
SNOMED-CT55 124630007, 41013004
Orphanet47 23
MESH via Orphanet34 D056807
ICD10 via Orphanet26 E72.2
UMLS via Orphanet61 C0268547

Summaries for Argininosuccinic Aciduria

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NIH Rare Diseases:41 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 carbamoylphosphate synthetase i deficiency, and has symptoms including aminoaciduria, hyperammonemia and incoordination. 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.

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.

OMIM:45 Argininosuccinic aciduria is an autosomal recessive disorder of the urea cycle. Urea cycle disorders are characterized... (207900) more...

Wikipedia:63 Argininosuccinic aciduria, also called argininosuccinic acidemia, is an inherited disorder that causes... more...

GeneReviews summary for args-aciduria

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:

 47 (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:

Search ClinicalTrials for Argininosuccinic Aciduria

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:

31
Liver, Skin, Testes, Brain, Kidney

Animal Models for Argininosuccinic Aciduria or affiliated genes

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MGI Mouse Phenotypes related to Argininosuccinic Aciduria:

35
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 88)
idTitleAuthorsYear
1
Atrioventricular block in siblings with argininosuccinic aciduria. (25889439)
2015
2
Argininosuccinic aciduria: from a monogenic to a complex disorder. (23306800)
2013
3
Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria. (24136197)
2013
4
Optimizing therapy for argininosuccinic aciduria. (22841516)
2012
5
Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria. (21667091)
2012
6
Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria. (22231378)
2012
7
Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond. (21312326)
2011
8
Epilepsy and argininosuccinic aciduria. (21744316)
2011
9
Argininosuccinic aciduria: clinical and biochemical phenotype findings in Malaysian children. (21329179)
2010
10
Living related liver transplant in a patient with argininosuccinic aciduria and cirrhosis: metabolic follow-up. (18367960)
2008
11
Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia. (16475226)
2006
12
Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria. (16435180)
2005
13
A mouse model of argininosuccinic aciduria: biochemical characterization. (12559843)
2003
14
Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families. (12408190)
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
Prenatal diagnosis of argininosuccinic aciduria: effect of mycoplasma contamination on the indirect assay for argininosuccinate lyase. (7424915)
1980
28
Argininosuccinic aciduria: prenatal studies in a family at risk. (484552)
1979
29
Argininosuccinic aciduria: assignment of the argininosuccinate lyase gene to the pter to q22 region of human chromosome 7 by bioautography. (282632)
1978
30
Protein load in argininosuccinic aciduria: thoughts on its biochemical implications. (556398)
1978
31
Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity. (174426)
1976
32
Peritoneal dialysis and exchange transfusion in a neonate with argininosuccinic aciduria. (952557)
1976
33
Amino acid levels in patients with hyperammonaemia and argininosuccinic aciduria. (4839092)
1974
34
Argininosuccinic aciduria. Report of three cases and the effect of high and reduced protein intake on the clinical state. (4136541)
1974
35
Argininosuccinic aciduria: perinatal diagnosis and early dietary management. (4850634)
1974
36
Argininosuccinate lyase levels in blood, liver and cultured fibroblasts of a patient with argininosuccinic aciduria. (4732887)
1973
37
Argininosuccinic aciduria. (4706398)
1973
38
Antenatal diagnosis of argininosuccinic aciduria. (4765206)
1973
39
The pathological findings in a case of argininosuccinic aciduria. (5173011)
1971
40
Urea production from labelled ammonia in argininosuccinic aciduria. (5790325)
1969
41
Argininosuccinic aciduria. Neonatal variant with rapid fatal course. (5365174)
1969
42
Detection of argininosuccinic aciduria by gas chromatography. (5762134)
1969
43
Argininosuccinic aciduria. A case. (4190301)
1969
44
Argininosuccinic aciduria. Report of two new cases and demonstration of intermittent elevation of blood ammonia. (6016480)
1967
45
ARGININOSUCCINIC ACIDURIA IN MONILETHRIX. (14187469)
1964
46
ARGININOSUCCINIC ACIDURIA. ARGININOSUCCINASE AND ARGINASE IN HUMAN BLOOD CELLS. (14162426)
1964
47
A familial study of a human enzyme defect, argininosuccinic aciduria. (5836520)
1964
48
Argininosuccinic aciduria and maple syrup urine disease. (13885492)
1962
49
Argininosuccinic aciduria, an inborn error of amino acid metabolism. (14464548)
1961
50
Argininosuccinic aciduria: identification and reactions of the abnormal metabolite in a newly described form of mental disease, with some preliminary metabolic studies. (13784598)
1960

Variations for Argininosuccinic Aciduria

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UniProtKB/Swiss-Prot genetic disease variations for Argininosuccinic Aciduria:

62 (show all 57)
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
15ASLp.Val70AlaVAR_072186
16ASLp.Arg94CysVAR_072187
17ASLp.Arg94HisVAR_072188
18ASLp.Arg95HisVAR_072189
19ASLp.Ala104ValVAR_072190
20ASLp.Asp120GluVAR_072191
21ASLp.Leu121HisVAR_072192
22ASLp.Arg126TrpVAR_072193
23ASLp.Arg146TrpVAR_072194
24ASLp.Pro156ArgVAR_072195
25ASLp.His160AsnVAR_072196
26ASLp.Pro166HisVAR_072197
27ASLp.Arg168HisVAR_072198
28ASLp.Ser170AsnVAR_072199
29ASLp.Leu180ArgVAR_072200
30ASLp.Arg182GlnVAR_072201
31ASLp.Arg191TrpVAR_072202
32ASLp.Arg193TrpVAR_072203
33ASLp.Ala205ValVAR_072204
34ASLp.Arg213GlnVAR_072205
35ASLp.Leu227ProVAR_072206
36ASLp.Ser229ArgVAR_072207
37ASLp.Ser229ThrVAR_072208
38ASLp.Asp231GluVAR_072209
39ASLp.Asp237AsnVAR_072210
40ASLp.Met256ThrVAR_072211
41ASLp.Leu262ProVAR_072212
42ASLp.Leu295ProVAR_072213
43ASLp.Gly301ArgVAR_072214
44ASLp.Arg306TrpVAR_072215
45ASLp.Asp324AlaVAR_072216
46ASLp.Gln326LeuVAR_072217
47ASLp.Leu343PheVAR_072218
48ASLp.Leu343ProVAR_072219
49ASLp.Met368ValVAR_072220
50ASLp.Lys380GluVAR_072221
51ASLp.Arg385HisVAR_072222
52ASLp.Arg385LeuVAR_072223
53ASLp.His388GlnVAR_072224
54ASLp.Ser433ArgVAR_072225
55ASLp.Val434LeuVAR_072226
56ASLp.Ser447AsnVAR_072227
57ASLp.Arg456GlnVAR_072228

Clinvar genetic disease variations for Argininosuccinic Aciduria:

6
id Gene Variation 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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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 Suite gene sharing:

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 biosynthesis36
glycine degradation (creatine biosynthesis)36
putrescine biosynthesis III36
spermidine biosynthesis I36
tryptophan degradation via kynurenine36
spermine biosynthesis36
urea cycle36
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I36
tyrosine degradation I36
L-carnitine biosynthesis36
methylthiopropionate biosynthesis36
2-oxoglutarate decarboxylation to succinyl-CoA36
S-methyl-5-thioadenosine degradation II36
8.5ASS1, ASL, OTC
5
Show member pathways
citrulline-nitric oxide cycle36
arginine degradation I (arginase pathway)36
proline degradation36
glutamine degradation I36
proline biosynthesis I36
superpathway of citrulline metabolism36
proline biosynthesis II (from arginine)36
citrulline biosynthesis36
arginine degradation VI (arginase 2 pathway)36
Urea cycle and metabolism of amino groups36
asparagine biosynthesis I36
4-hydroxyproline degradation I36
citrulline degradation36
8.5ASS1, ASL, OTC
6
Show member pathways
L-serine degradation36
pentose phosphate pathway (oxidative branch)36
formaldehyde oxidation II (glutathione-dependent)36
8.5OTC, ASL, ASS1
7
Show member pathways
glutamate biosynthesis II36
arginine biosynthesis IV36
8.5OTC, ASL, ASS1

Compounds for genes affiliated with Argininosuccinic Aciduria

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Sources:
24HMDB, 43Novoseek, 28IUPHAR, 12DrugBank, 49PharmGKB, 2BitterDB
See all sources

Compounds related to Argininosuccinic Aciduria according to GeneCards Suite gene sharing:

(show all 27)
idCompoundScoreTop Affiliating Genes
1Canavaninosuccinate249.7ASL, ASS1
2argininosuccinic acid43 2410.7ASL, ASS1
3guanidinoacetate439.6ASL, ASS1
4l-arginine28 24 1211.6ASL, ASS1
5n-acetylglutamate439.5OTC, ASL
6sodium phenylbutyrate499.4ASS1, OTC
7malate439.4OTC, ASL
8delta(1)pyrroline-5-carboxylate439.3OTC, ASS1
9Adenosine monophosphate24 1210.3ASS1, MID1
10l-citrulline28 1210.3ASS1, OTC
11phosphoenolpyruvate43 1210.2OTC, ASS1
12phosphoric acid43 2410.2MID1, ASS1
13glutamine439.1OTC, ASL
14pyruvate439.1OTC, ASS1
15pyrophosphate43 2410.0MID1, ASS1
16sodium benzoate49 29.9OTC, ASL, ASS1
17phenylacetic acid49 43 2410.9ASS1, ASL, OTC
18carbamoyl phosphate438.9OTC, ASL, ASS1
19ammonium438.9ASS1, ASL, OTC
20citrulline43 249.9OTC, ASL, ASS1
21ornithine43 249.8OTC, ASL, ASS1
22urea43 24 1210.8ASS1, ASL, OTC
23creatinine438.8OTC, ASL, ASS1
24aspartate438.8ASS1, ASL, OTC
25arginine438.7OTC, ASL, ASS1
26nitric oxide43 24 1210.7ASS1, ASL, OTC
27glutamate438.6OTC, ASL, ASS1

GO Terms for genes affiliated with Argininosuccinic Aciduria

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Biological processes related to Argininosuccinic Aciduria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1arginine biosynthetic processGO:00065268.9OTC, ASS1
2urea cycleGO:00000508.5OTC, ASL, ASS1
3small molecule metabolic processGO:00442818.5OTC, ASL, ASS1
4cellular nitrogen compound metabolic processGO:00346418.2ASS1, ASL, OTC

Products for genes affiliated with Argininosuccinic Aciduria

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Sources for Argininosuccinic Aciduria

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet