ASA
MCID: ARG002
MIFTS: 56

Argininosuccinic Aciduria (ASA) malady

Metabolic category

Summaries for Argininosuccinic Aciduria

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 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 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 brain, kidney and liver, 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:64 Argininosuccinic aciduria, also called argininosuccinic acidemia, is an inherited disorder that causes... more...

Description from OMIM:47 207900

GeneReviews summary for args-aciduria

Aliases & Classifications for Argininosuccinic Aciduria

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47OMIM, 10DISEASES, 49Orphanet, 61UMLS, 19GeneReviews, 45Novoseek, 22GTR, 40NCIt, 35MeSH, 57SNOMED-CT, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Metabolic


Characteristics (Orphanet epidemiological data):

49
argininosuccinic aciduria:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Childhood; Age of death: Any age


Aliases & Descriptions:

argininosuccinic aciduria 8 9 43 20 21 47 10 49 61
argininosuccinate lyase deficiency 8 19 43 21 45
argininosuccinate lyase 9 20 22
argininosuccinic acid lyase deficiency 19 43
arginosuccinase deficiency 8 21
argininosuccinic acidemia 8 21
argininosuccinicaciduria 43 21
asl deficiency 19 21
argininosuccinyl-coa lyase deficiency 21
deficiency of argininosuccinate lyase 8
arginino succinase deficiency 43
argininosuccinase deficiency 49
argininosuccinate acidemia 43
aciduria argininosuccinic 45
asauria 21
asa 21


External Ids:

Disease Ontology8 DOID:14755
NCIt40 C84569
MeSH35 D056807
OMIM47 207900
SNOMED-CT57 41013004, 124630007
MESH via Orphanet36 D056807
ICD10 via Orphanet26 E72.2
SNOMED-CT via Orphanet58 41013004
UMLS via Orphanet62 C0268547

Related Diseases for Argininosuccinic Aciduria

Sources:
17GeneCards, 18GeneDecks
See all sources

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



Diseases related to argininosuccinic aciduria

Clinical Features for Argininosuccinic Aciduria

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

207900

Clinical synopsis from OMIM:

207900

Symptoms:

49 (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

Drugs & Therapeutics for Argininosuccinic Aciduria

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Argininosuccinic Aciduria:

33
Brain, Kidney, Liver, Skin

Animal Models for Argininosuccinic Aciduria or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Argininosuccinic Aciduria:

37
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

Sources:
51PubMed
See all sources

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
Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria. (24136197)
2013
3
Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria. (21667091)
2012
4
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
5
Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria. (22541557)
2012
6
Rhode Island metabolic newborn screening: the effect of early identification. A case report of argininosuccinic aciduria (ASA). (21710918)
2011
7
Novel mutations underlying argininosuccinic aciduria in Saudi Arabia. (20298553)
2010
8
Liver transplantation for argininosuccinic aciduria: clinical, biochemical, and metabolic outcome. (18161830)
2008
9
Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia. (16475226)
2006
10
13C NMR spectroscopy: a convenient tool for detection of argininosuccinic aciduria. (11489385)
2001
11
Fatal hyperammonaemia in argininosuccinic aciduria following enflurane anaesthesia. (9504797)
1998
12
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
13
Transabdominal chorionic villus sampling in a multiple pregnancy at risk of argininosuccinic aciduria: a case report. (2389802)
1990
14
Molecular basis of enzyme abnormalities in urea cycle disorders. With special reference to citrullinemia and argininosuccinic aciduria. (3440446)
1987
15
Diagnosis of argininosuccinic aciduria after valproic acid-induced hyperammonemia. (3106853)
1987
16
Argininosuccinic aciduria: long-term treatment with arginine. (3116334)
1987
17
Rapid detection of argininosuccinic aciduria and citrullinuria by fast atom bombardment and tandem mass spectrometry. (3698313)
1986
18
Absence of argininosuccinate lyase protein in the liver of two patients with argininosuccinic aciduria. (3757266)
1986
19
Argininosuccinic aciduria. A developmental and biochemical case study. (6886731)
1983
20
Amino acid and enzyme studies of brain and other tissues in an infant with argininosuccinic aciduria. (7398094)
1980
21
Neonatal argininosuccinic aciduria-survival after early diagnosis and dietary management. (7359236)
1980
22
Argininosuccinic acid synthetase deficiency in a hamster cell line and its complementation of argininosuccinic aciduria human fibroblasts. (6777600)
1980
23
Argininosuccinic aciduria: prenatal studies in a family at risk. (484552)
1979
24
Argininosuccinic aciduria: assignment of the argininosuccinate lyase gene to the pter to q22 region of human chromosome 7 by bioautography. (282632)
1978
25
Protein load in argininosuccinic aciduria: thoughts on its biochemical implications. (556398)
1978
26
Enzymologic and metabolic studies in two families affected by argininosuccinic aciduria. (652408)
1978
27
Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity. (174426)
1976
28
Peritoneal dialysis and exchange transfusion in a neonate with argininosuccinic aciduria. (952557)
1976
29
Amino acid levels in patients with hyperammonaemia and argininosuccinic aciduria. (4839092)
1974
30
Argininosuccinic aciduria. Report of three cases and the effect of high and reduced protein intake on the clinical state. (4136541)
1974
31
Argininosuccinic aciduria: investigation of an affected family. (12119962)
1974
32
Argininosuccinic aciduria: antenatal investigations in an affected family. (4412079)
1974
33
The relationship between the formation of urea and argininosuccinate in a patient with argininosuccinic aciduria studied with labelled precursors. (4855037)
1974
34
Argininosuccinic aciduria. (4706398)
1973
35
Antenatal diagnosis of argininosuccinic aciduria. (4765206)
1973
36
Screening tests for argininosuccinic aciduria, orotic aciduria, and other inherited enzyme deficiencies using dried blood specimens. (4199795)
1972
37
Argininosuccinic aciduria. Case report with neuropathological findings. (5422414)
1970
38
Detection of argininosuccinic aciduria by gas chromatography. (5762134)
1969
39
Argininosuccinic aciduria. A case. (4190301)
1969
40
Argininosuccinic aciduria in hereditary hair diseases. (4185293)
1968
41
Argininosuccinic aciduria. Report of two new cases and demonstration of intermittent elevation of blood ammonia. (6016480)
1967
42
Urea cycle enzymes in the liver of a patient with argininosuccinic aciduria. (6028121)
1967
43
ARGININOSUCCINIC ACIDURIA IN MONILETHRIX. (14187469)
1964
44
ARGININOSUCCINIC ACIDURIA. ARGININOSUCCINASE AND ARGINASE IN HUMAN BLOOD CELLS. (14162426)
1964
45
A familial study of a human enzyme defect, argininosuccinic aciduria. (5836520)
1964
46
AN OCCURRENCE OF ARGININOSUCCINIC ACIDURIA. (14117386)
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

Genetic Variations for Argininosuccinic Aciduria

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Argininosuccinic Aciduria:

63 (show all 14)
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
30KEGG, 38NCBI BioSystems Database, 54Reactome
See all sources

Compounds for genes affiliated with Argininosuccinic Aciduria

Sources:
45Novoseek, 24HMDB, 29IUPHAR, 11DrugBank, 50PharmGKB, 2BitterDB
See all sources

Compounds related to Argininosuccinic Aciduria according to GeneCards/GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
1argininosuccinic acid45 2410.7ASL, ASS1
2guanidinoacetate459.7ASL, ASS1
3l-arginine29 11 2411.6ASL, ASS1
4n-acetylglutamate459.5ASL, OTC
5malate459.4ASL, OTC
6delta(1)pyrroline-5-carboxylate459.3ASS1, OTC
7l-citrulline29 1110.3ASS1, OTC
8phosphoenolpyruvate45 1110.2OTC, ASS1
9sodium benzoate50 210.0ASL, ASS1, OTC
10phenylacetic acid50 45 2411.0ASL, ASS1, OTC
11carbamoyl phosphate459.0OTC, ASS1, ASL
12ammonium458.9ASL, ASS1, OTC
13citrulline45 249.9OTC, ASS1, ASL
14ornithine45 249.9OTC, ASS1, ASL
15urea45 11 2410.9OTC, ASS1, ASL
16creatinine458.7ASL, ASS1, OTC
17aspartate458.6OTC, ASS1, ASL
18glutamate458.6ASL, ASS1, OTC
19leucine458.6HMGCL, OTC, ASS1
20arginine458.5ASL, ASS1, OTC
21nitric oxide45 11 2410.3OTC, ASS1, ASL

GO Terms for genes affiliated with Argininosuccinic Aciduria

Sources:
16Gene Ontology
See all sources

Biological processes related to Argininosuccinic Aciduria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1liver developmentGO:0018899.1HMGCL, OTC
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Argininosuccinic Aciduria

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet