ORPHA:23
Argininosuccinic aciduria
Synonyms: ASA deficiency · ASL deficiency · Argininosuccinase deficiency · Argininosuccinatelyase deficiency · Argininosuccinic acid lyase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare, genetic disorder of urea cycle metabolism typically characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms that manifest with stress- or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities, or chronic liver disease. Patients often manifest liver dysfunction.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Argininosuccinic aciduria | ASA deficiency · ASL deficiency · Argininosuccinase deficiency · Argininosuccinatelyase deficiency · Argininosuccinic acid lyase deficiency |
| fr | Acidurie argininosuccinique | ASA · Déficit en ASL · Déficit en acide arginosuccinique synthétase · Déficit en argininosuccinase · Déficit en argino-succinate lyase |
| de | Argininbernsteinsäure-Krankheit | ASL-Mangel · Argininosuccinase-Mangel · Argininsuccinat-Lyase-Mangel · Argininosuccinoazidurie |
| es | Aciduria argininosuccínica | Deficiencia ASA · Deficiencia ASL · Deficiencia de argininosuccinato liasa · Deficiencia de arginosuccinasa · Deficiencia de ácido argininosuccínico liasa |
| it | Aciduria argininosuccinica | Deficit della liasi dell'acido argininosuccinico · Deficit di ASA · Deficit di ASL · Deficit di argininosuccinasi · Deficit di argininosuccinato liasi |
| nl | Argininobarnsteenzuuracidurie | ASA-deficiëntie · ASL-deficiëntie · Argininobarnsteenzuurlyasedeficiëntie · Argininosuccinaatlyasedeficiëntie · Argininosuccinasedeficiëntie |
| pt | Acidúria argininosuccínica | Deficiência de argininosuccinase |
| pl | Kwasica argininobursztynianowa | Niedobór argininosukcynazy · Niedobór ASA · Niedobór ASL · Niedobór liazy argininobursztynianowej · Niedobór liazy kwasu argininobursztynowego |
| cs | Argininsukcinátová acidurie | Deficit ASA · Deficit ASL · Deficit argininsukcinázy · Deficit argininosukcinátlyázy · Deficit argininsukcinátlyázy |
| uk | Аргінінобурштинова ацидурія | Дефіцит аргініносукцинази · Дефіцит аргініносукцинатеази · Дефіцит ліази аргінінобурштинової кислоти · Дефіцит ASA · Дефіцит ASL |
| zh | 精氨基琥珀酸尿 | 精氨基琥珀酸裂合酶缺乏症 |
| tr | Arjininosukinik asidüri | ASA eksikliği · ASL eksikliği · Arjininosüksinaz eksikliği · Arjininosüksinatilaz eksikliği · Arjininosüksinik asit liyaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 207900 | E | validated | |
| ICD-10 | E72.2 | NTBT | inclusion | validated |
| ICD-11 | 5C50.A0 | E | specific | validated |
| MONDO | 0008815 | E | validated | |
| MeSH | D056807 | E | validated | |
| UMLS | C0268547 | E | validated | |
| GARD | 5843 | E | validated | |
| MedDRA | 10058299 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:79167Disorder of urea cycle metabolism and ammonia detoxification
rare inborn errors of metabolism; rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ASL | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:746 | ENSG00000126522 | 608310 | 7q11.21 | argininosuccinate lyase | 12384776[PMID]_21290785[PMID] |
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.46 / 100 000 | United States | Value and class | Validated | 23972786[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.69 / 100 000 | Finland | Value and class | Validated | 18616627[PMID] |
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2019[OTHER]_[EXPERT] |
| Prevalence at birth | 1-9 / 100 000 | 1.05 / 100 000 | Austria | Value and class | Validated | 20236848[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
51 annotations · validated 2024-05-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003355 | Aminoaciduria | |
| HP:0001987 | Hyperammonemia | |
| HP:0003217 | Hyperglutaminemia | |
| HP:0005961 | Hypoargininemia | |
| Frequent (79-30%) | ||
| HP:0025630 | Argininosuccinic aciduria | |
| HP:0001251 | Ataxia | |
| HP:0002329 | Drowsiness | |
| HP:0002353 | EEG abnormality | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0011966 | Elevated plasma citrulline | |
| HP:0002240 | Hepatomegaly | |
| HP:0000822 | Hypertension | |
| HP:0032491 | Increased circulating argininosuccinic acid | |
| HP:0001249 | Intellectual disability | |
| HP:0001254 | Lethargy | |
| HP:0032470 | Monilethrix | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0001950 | Respiratory alkalosis | |
| HP:0001250 | Seizure | |
| HP:0001328 | Specific learning disability | |
| HP:0002789 | Tachypnea | |
| HP:0002013 | Vomiting | |
| Occasional (29-5%) | ||
| HP:0011362 | Abnormal hair quantity | |
| HP:0011675 | Arrhythmia | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000670 | Carious teeth | |
| HP:0006280 | Chronic pancreatitis | |
| HP:0001394 | Cirrhosis | |
| HP:0000750 | Delayed speech and language development | |
| HP:0002014 | Diarrhea | |
| HP:0001332 | Dystonia | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0007183 | Focal T2 hyperintense basal ganglia lesion | |
| HP:0002283 | Global brain atrophy | |
| HP:0001399 | Hepatic failure | |
| HP:0001395 | Hepatic fibrosis | |
| HP:0002155 | Hypertriglyceridemia | |
| HP:0002900 | Hypokalemia | |
| HP:0001270 | Motor delay | |
| HP:0001324 | Muscle weakness | |
| HP:0003218 | Oroticaciduria | |
| HP:0002232 | Patchy alopecia | |
| HP:0006970 | Periventricular leukomalacia | |
| HP:0003777 | Pili torti | |
| HP:0000709 | Psychosis | |
| HP:0000083 | Renal insufficiency | |
| HP:0000742 | Self-mutilation | |
| HP:0001894 | Thrombocytosis | |
| HP:0001337 | Tremor | |
| HP:0009886 | Trichorrhexis nodosa | |
| Very rare (<4-1%) | ||
| HP:0001402 | Hepatocellular carcinoma | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 21290785[PMID]_30723942[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/23
- This record as JSON: /data/d/23.json