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, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 46OMIM, 10DISEASES, 48Orphanet, 60UMLS, 19GeneReviews, 44Novoseek, 22GTR, 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
Argininosuccinic aciduria: from a monogenic to a complex disorder. (23306800)
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
Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria. (22541557)
2012
6
Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond. (21312326)
2011
7
Epilepsy and argininosuccinic aciduria. (21744316)
2011
8
Rhode Island metabolic newborn screening: the effect of early identification. A case report of argininosuccinic aciduria (ASA). (21710918)
2011
9
Experience with the treatment of argininosuccinic aciduria during pregnancy. (19585269)
2009
10
Liver transplantation for argininosuccinic aciduria: clinical, biochemical, and metabolic outcome. (18161830)
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 novel stop codon mutation (X465Y) in the argininosuccinate lyase gene in a patient with argininosuccinic aciduria. (12512996)
2002
14
13C NMR spectroscopy: a convenient tool for detection of argininosuccinic aciduria. (11489385)
2001
15
Fatal hyperammonaemia in argininosuccinic aciduria following enflurane anaesthesia. (9504797)
1998
16
Pregnancy and argininosuccinic aciduria. (8892017)
1996
17
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
18
Late onset argininosuccinic aciduria in a paranoid retardate. (1790264)
1991
19
Transabdominal chorionic villus sampling in a multiple pregnancy at risk of argininosuccinic aciduria: a case report. (2389802)
1990
20
Molecular basis of enzyme abnormalities in urea cycle disorders. With special reference to citrullinemia and argininosuccinic aciduria. (3440446)
1987
21
Diagnosis of argininosuccinic aciduria after valproic acid-induced hyperammonemia. (3106853)
1987
22
Severe liver fibrosis in argininosuccinic aciduria. (3753845)
1986
23
Absence of argininosuccinate lyase protein in the liver of two patients with argininosuccinic aciduria. (3757266)
1986
24
Argininosuccinic aciduria. A developmental and biochemical case study. (6886731)
1983
25
First case of argininosuccinic aciduria in Japan: clinical observations and treatment. (7164926)
1982
26
Neonatal survival after early diagnosis and treatment of argininosuccinic aciduria. (7431187)
1980
27
Amino acid and enzyme studies of brain and other tissues in an infant with argininosuccinic aciduria. (7398094)
1980
28
Neonatal argininosuccinic aciduria-survival after early diagnosis and dietary management. (7359236)
1980
29
Argininosuccinic aciduria: prenatal studies in a family at risk. (484552)
1979
30
Argininosuccinic aciduria: assignment of the argininosuccinate lyase gene to the pter to q22 region of human chromosome 7 by bioautography. (282632)
1978
31
Protein load in argininosuccinic aciduria: thoughts on its biochemical implications. (556398)
1978
32
Treatment of argininosuccinic aciduria with keto analogues of essential amino acids. (707337)
1978
33
Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity. (174426)
1976
34
Letter: Survival of infant with argininosuccinic aciduria to 3 months of age. (1127512)
1975
35
Argininosuccinic aciduria. Report of three cases and the effect of high and reduced protein intake on the clinical state. (4136541)
1974
36
Argininosuccinic aciduria: perinatal diagnosis and early dietary management. (4850634)
1974
37
Argininosuccinic aciduria: investigation of an affected family. (12119962)
1974
38
The relationship between the formation of urea and argininosuccinate in a patient with argininosuccinic aciduria studied with labelled precursors. (4855037)
1974
39
Argininosuccinate lyase levels in blood, liver and cultured fibroblasts of a patient with argininosuccinic aciduria. (4732887)
1973
40
Argininosuccinic aciduria. (4706398)
1973
41
Screening tests for argininosuccinic aciduria, orotic aciduria, and other inherited enzyme deficiencies using dried blood specimens. (4199795)
1972
42
The pathological findings in a case of argininosuccinic aciduria. (5173011)
1971
43
Argininosuccinic aciduria. Case report with neuropathological findings. (5422414)
1970
44
Argininosuccinic aciduria in hereditary hair diseases. (4185293)
1968
45
Argininosuccinic aciduria. Report of two new cases and demonstration of intermittent elevation of blood ammonia. (6016480)
1967
46
Urea cycle enzymes in the liver of a patient with argininosuccinic aciduria. (6028121)
1967
47
ARGININOSUCCINIC ACIDURIA IN MONILETHRIX. (14187469)
1964
48
ARGININOSUCCINIC ACIDURIA. ARGININOSUCCINASE AND ARGINASE IN HUMAN BLOOD CELLS. (14162426)
1964
49
A familial study of a human enzyme defect, argininosuccinic aciduria. (5836520)
1964
50
Argininosuccinic aciduria. A new form of mental deficiency due to metabolic causes. (13815969)
1959

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