ASA
MCID: ARG002
MIFTS: 64

Argininosuccinic Aciduria (ASA) malady

Metabolic diseases category

Summaries for Argininosuccinic Aciduria

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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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: Argininosuccinic Aciduria, also known as argininosuccinate lyase deficiency, is related to urea cycle disorder and citrullinemia, and has symptoms including hypotrichosis/atrichia/atrichiasis/scalp hairlessness, short stature/dwarfism/nanism and hyperammonemia. An important gene associated with Argininosuccinic Aciduria is ASL (argininosuccinate lyase), and among its related pathways are Peroxisome and Alanine, aspartate and glutamate metabolism. The compounds argininosuccinic acid and guanidinoacetate have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and testes, and related mouse phenotypes are behavior/neurological and growth/size.

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:63 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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8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 39NCIt, 34MeSH, 56SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

argininosuccinic aciduria 8 9 42 20 21 46 10 48 60
argininosuccinate lyase deficiency 8 19 42 21 44
argininosuccinate lyase 9 20 22
argininosuccinic acid lyase deficiency 19 42
arginosuccinase deficiency 8 21
argininosuccinic acidemia 8 21
argininosuccinicaciduria 42 21
asl deficiency 19 21
argininosuccinyl-coa lyase deficiency 21
deficiency of argininosuccinate lyase 8
arginino succinase deficiency 42
argininosuccinase deficiency 48
argininosuccinate acidemia 42
aciduria argininosuccinic 44
asauria 21
asa 21


External Ids:

Disease Ontology8 DOID:14755
NCIt39 C84569
MeSH34 D056807
OMIM46 207900
SNOMED-CT56 41013004, 124630007
MESH via Orphanet35 D056807
ICD10 via Orphanet26 E72.2
SNOMED-CT via Orphanet57 41013004
UMLS via Orphanet61 C0268547

Related Diseases for Argininosuccinic Aciduria

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17GeneCards, 18GeneDecks
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Diseases related to Argininosuccinic Aciduria via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1urea cycle disorder30.4ASL, ASS1
2citrullinemia30.4OTC, ASS1, ASL
3carbamoyl phosphate synthetase i deficiency disease30.3OTC, ASS1
4ornithine carbamoyltransferase deficiency30.3OTC, ASS1, ASL
5hyperargininemia30.3OTC, ASS1, ASL
6maple syrup urine disease30.2HMGCL, OTC
7liver disease10.4
8cerebritis10.3
9ankylosing spondylitis10.2
10aortic disease10.2
11spondylitis10.2
12vascular disease10.2
13neuronitis10.2
14hepatocellular carcinoma10.2
15ischemia10.2
16tuberculosis10.2
17asthma10.2
18monilethrix10.1
19hepatitis a10.1
20alopecia10.1
21complement deficiency10.1
22hair disease10.1
23hepatitis10.1
24liver cirrhosis10.1
25peritonitis10.1
26patent foramen ovale10.1
27metachromatic leukodystrophy10.1
28infertility10.1
29leukodystrophy10.1
30urticaria10.1
31beta-ketothiolase deficiency10.0HMGCL
32sialuria10.0MID1
33infantile refsum disease10.0PEX2
34hyperlysinemia10.0OTC
35multiple carboxylase deficiency10.0OTC
36reye syndrome10.0OTC, HMGCL
37methylmalonic acidemia10.0OTC, HMGCL
38adrenoleukodystrophy10.0PEX2, OTC
39orotic aciduria10.0ASL, ASS1, OTC
40lysinuric protein intolerance10.0OTC, ASS1, ASL
41propionic acidemia10.0HMGCL, OTC, ASS1
42homocystinuria10.0OTC, HMGCL
43hyperammonemia multi-gene panels10.0HMGCL, OTC, ASS1, ASL
44acute liver failure9.9
45essential tremor9.9
46intrinsic asthma9.9
47spindle cell carcinoma9.9
48bovine spongiform encephalopathy9.9
49coronary thrombosis9.9
50angioedema9.9

Graphical network of the top 20 diseases related to Argininosuccinic Aciduria:



Diseases related to argininosuccinic aciduria

Clinical Features for Argininosuccinic Aciduria

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46OMIM, 48Orphanet
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Clinical features from OMIM:

207900

Clinical synopsis from OMIM:

207900

Symptoms:

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

Drugs & Therapeutics for Argininosuccinic Aciduria

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Argininosuccinic Aciduria

Drug clinical trials:

Search ClinicalTrials for Argininosuccinic Aciduria

Search NIH Clinical Center for Argininosuccinic Aciduria

Search CenterWatch for Argininosuccinic Aciduria

Genetic Tests for Argininosuccinic Aciduria

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20GeneTests, 22GTR
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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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32MalaCards
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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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36MGI
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MGI Mouse Phenotypes related to Argininosuccinic Aciduria:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.6ASL, ASS1, PEX2, OTC, MID1
2MP:00053787.0ASL, ASS1, PEX2, OTC, HMGCL, MID1
3MP:00107686.8MID1, HMGCL, OTC, PEX2, ASS1, ASL

Publications for Argininosuccinic Aciduria

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50PubMed
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Articles related to Argininosuccinic Aciduria:

(show top 50)    (show all 86)
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
A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine therapy on hepatic function tests in argininosuccinic aciduria. (23040521)
2012
3
Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria. (22541557)
2012
4
Argininosuccinic aciduria: clinical and biochemical phenotype findings in Malaysian children. (21329179)
2010
5
Novel mutations underlying argininosuccinic aciduria in Saudi Arabia. (20298553)
2010
6
Living related liver transplant in a patient with argininosuccinic aciduria and cirrhosis: metabolic follow-up. (18367960)
2008
7
A mouse model of argininosuccinic aciduria: biochemical characterization. (12559843)
2003
8
Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families. (12408190)
2002
9
13C NMR spectroscopy: a convenient tool for detection of argininosuccinic aciduria. (11489385)
2001
10
Use of amniotic fluid amino acids in prenatal testing for argininosuccinic aciduria and citrullinaemia. (8843999)
1996
11
Argininosuccinic aciduria: clinical and biochemical findings in three children with the late onset form, with special emphasis on cerebrospinal fluid findings of amino acids and pyrimidines. (7682674)
1993
12
Prenatal diagnosis of argininosuccinic aciduria by assay of argininosuccinate in amniotic fluid at the 12th week of gestation. (2333894)
1990
13
Transabdominal chorionic villus sampling in a multiple pregnancy at risk of argininosuccinic aciduria: a case report. (2389802)
1990
14
Argininosuccinic aciduria--an underdiagnosed cause of neonatal death? (2711176)
1989
15
Molecular basis of enzyme abnormalities in urea cycle disorders. With special reference to citrullinemia and argininosuccinic aciduria. (3440446)
1987
16
Argininosuccinic aciduria: long-term treatment with arginine. (3116334)
1987
17
Anorexia and altered serotonin metabolism in a patient with argininosuccinic aciduria. (2422338)
1986
18
Rapid detection of argininosuccinic aciduria and citrullinuria by fast atom bombardment and tandem mass spectrometry. (3698313)
1986
19
High-performance liquid chromatographic assay of argininosuccinate: its application in argininosuccinic aciduria and in normal man. (3088323)
1986
20
Absence of argininosuccinate lyase protein in the liver of two patients with argininosuccinic aciduria. (3757266)
1986
21
Argininosuccinic aciduria in adult: a clinical, electrophysiological and biochemical study. (7164925)
1982
22
Argininosuccinic aciduria in a Finnish woman presenting with psychosis and mental retardation. (7137886)
1982
23
Amino acid and enzyme studies of brain and other tissues in an infant with argininosuccinic aciduria. (7398094)
1980
24
Neonatal argininosuccinic aciduria-survival after early diagnosis and dietary management. (7359236)
1980
25
Prenatal diagnosis of argininosuccinic aciduria: effect of mycoplasma contamination on the indirect assay for argininosuccinate lyase. (7424915)
1980
26
Argininosuccinic acid synthetase deficiency in a hamster cell line and its complementation of argininosuccinic aciduria human fibroblasts. (6777600)
1980
27
Mild variant of argininosuccinic aciduria. (6796754)
1980
28
Argininosuccinic aciduria: prenatal studies in a family at risk. (484552)
1979
29
Enzymologic and metabolic studies in two families affected by argininosuccinic aciduria. (652408)
1978
30
Argininosuccinic aciduria: metabolic studies and effects of treatment with keto-analogues of essential amino acids. (668730)
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: antenatal investigations in an affected family. (4412079)
1974
35
Argininosuccinic aciduria. (4706398)
1973
36
Antenatal diagnosis of argininosuccinic aciduria. (4765206)
1973
37
Argininosuccinic aciduria. Case report with neuropathological findings. (5422414)
1970
38
Urea production from labelled ammonia in argininosuccinic aciduria. (5790325)
1969
39
Argininosuccinic aciduria. Neonatal variant with rapid fatal course. (5365174)
1969
40
Detection of argininosuccinic aciduria by gas chromatography. (5762134)
1969
41
Argininosuccinic aciduria. A case. (4190301)
1969
42
Argininosuccinic aciduria: clinical, biochemical, anatomical and neuropathological observations. (5823673)
1969
43
Argininosuccinic aciduria. Report of two new cases and demonstration of intermittent elevation of blood ammonia. (6016480)
1967
44
Aminogenic alopecia. Loss of hair associated with argininosuccinic aciduria. (4165309)
1965
45
ARGININOSUCCINIC ACIDURIA IN MONILETHRIX. (14187469)
1964
46
A familial study of a human enzyme defect, argininosuccinic aciduria. (5836520)
1964
47
AN OCCURRENCE OF ARGININOSUCCINIC ACIDURIA. (14117386)
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

Genetic Variations for Argininosuccinic Aciduria

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Argininosuccinic Aciduria:

62 (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

Expression for genes affiliated with Argininosuccinic Aciduria

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1BioGPS, 15Gene 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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29KEGG, 37NCBI BioSystems Database, 53Reactome
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Compounds for genes affiliated with Argininosuccinic Aciduria

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44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank, 49PharmGKB, 2BitterDB
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Compounds related to Argininosuccinic Aciduria according to GeneCards/GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
1argininosuccinic acid44 2410.7ASL, ASS1
2guanidinoacetate449.7ASL, ASS1
3l-arginine28 11 2411.6ASL, ASS1
4n-acetylglutamate449.5ASL, OTC
5malate449.4ASL, OTC
6delta(1)pyrroline-5-carboxylate449.3ASS1, OTC
7l-citrulline28 1110.3ASS1, OTC
8phosphoenolpyruvate44 1110.2OTC, ASS1
9sodium benzoate49 210.0ASL, ASS1, OTC
10phenylacetic acid49 44 2411.0ASL, ASS1, OTC
11carbamoyl phosphate449.0OTC, ASS1, ASL
12ammonium448.9ASL, ASS1, OTC
13citrulline44 249.9OTC, ASS1, ASL
14ornithine44 249.9OTC, ASS1, ASL
15urea44 11 2410.9OTC, ASS1, ASL
16creatinine448.7ASL, ASS1, OTC
17aspartate448.6OTC, ASS1, ASL
18glutamate448.6ASL, ASS1, OTC
19leucine448.6HMGCL, OTC, ASS1
20arginine448.5ASL, ASS1, OTC
21nitric oxide44 11 2410.3OTC, ASS1, ASL

GO Terms for genes affiliated with Argininosuccinic Aciduria

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16Gene Ontology
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Biological processes related to Argininosuccinic Aciduria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1liver developmentGO:0018899.1OTC, HMGCL
2arginine biosynthetic processGO:0065269.0ASS1, OTC
3urea cycleGO:0000508.7ASL, ASS1, OTC
4cellular nitrogen compound metabolic processGO:0346418.5OTC, ASS1, ASL
5small molecule metabolic processGO:0442817.8ASL, ASS1, OTC, HMGCL

Products for genes affiliated with Argininosuccinic Aciduria

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  • Antibodies
  • Proteins
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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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet