Argininosuccinic Aciduria

Alternative Names

  • Argininosuccinase Deficiency
  • Argininosuccinate Lyase Deficiency
  • ASL Deficiency
  • Argininosuccinic Acid Lyase Deficiency

Associated Genes

Argininosuccinate Lyase
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number


Mode of Inheritance

Autosomal recessive

Gene Map Locus



Argininosuccinic aciduria is an autosomal recessive disorder characterized by hyperammonemia due to defects in the Argininosuccinate Lyase (ASL) gene. The presenting features in the neonatal-onset form of this disorder include, lethargy, poor appetite, irritability, vomiting, and poor control on breathing rate. Early diagnosis is extremely important for proper management of this condition. If left untreated, the patient may develop severe symptoms, such as hepatomegaly, developmental delay, intellectual disability, and in some cases could even lead to coma and death. The late-onset form of argininosuccinic aciduria is milder and symptoms, usually episodic, appear as a result of infection or stress.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
207900.1Saudi ArabiaUnknown Elevated plasma citrullineNM_000048.4:c.343G>T, NM_000048.4:c.556C>THeterozygousAutosomal, RecessiveImtiaz et al. 2010 Compound heterozygou...
207900.2Saudi ArabiaUnknown Elevated plasma citrullineNM_000048.4:c.469G>AHomozygousAutosomal, RecessiveImtiaz et al. 2010
207900.3Saudi ArabiaUnknown Elevated plasma citrullineNM_000048.4:c.496C>THomozygousAutosomal, RecessiveImtiaz et al. 2010
207900.4Saudi ArabiaUnknown Elevated plasma citrullineNM_000048.4:c.1143+5G>CHomozygousAutosomal, RecessiveImtiaz et al. 2010
207900.5Saudi ArabiaUnknown Elevated plasma citrullineNM_000048.4:c.544C>THomozygousAutosomal, RecessiveImtiaz et al. 2010
207900.6Saudi ArabiaUnknown Elevated plasma citrullineNM_000048.4:c.1081G>THomozygousAutosomal, RecessiveImtiaz et al. 2010
207900.7.1Saudi ArabiaMaleYesYes Attention deficit hyperactivity disorder...NM_000048.4:c.1060C>THomozygousAutosomal, RecessiveAl-Sayed et al. 2005 'Patient 1' in the p...
207900.7.2Saudi ArabiaFemaleYesYes Attention deficit hyperactivity disorder...NM_000048.4:c.1060C>THomozygousAutosomal, RecessiveAl-Sayed et al. 2005 Patient 2' in the pu...
207900.8LebanonUnknown HyperammonemiaNM_000048.4:c.1153C>THomozygousAutosomal, RecessiveLinnebank et al. 2002 'Patient 851' in the...
207900.9MoroccoUnknown HyperammonemiaNM_000048.4:c.175G>AHomozygousAutosomal, RecessiveLinnebank et al. 2002 'Patient 861' in the...
207900.10ArabMale HyperammonemiaNM_000048.4:c.1135C>T, NM_000048.4:c.1275C>THomozygousAutosomal, RecessiveLinnebank et al. 2002 'Patient 892' in the...
207900.11ArabFemale HyperammonemiaNM_000048.4:c.346C>THomozygousAutosomal, RecessiveLinnebank et al. 2002 'Patient 893' in the...
207900.12ArabFemale HyperammonemiaNM_000048.4:c.346C>THomozygousAutosomal, RecessiveLinnebank et al. 2002 'Patient 894' in the...
207900.13SudanUnknown HyperammonemiaNM_000048.4:c.544C>GHomozygousAutosomal, RecessiveAl-Jasmi at al. 2016 UAE resident of Suda...
207900.14United Arab EmiratesMaleNoYes Global developmental delay; Abnormal hea...NM_000048.4:c.332G>AHomozygousAutosomal, RecessiveSaleh et al. 2021
207900.15United Arab EmiratesFemaleYesYes Seizure precipitated by febrile infectio...NM_000048.4:c.332G>AHomozygousAutosomal, RecessiveSaleh et al. 2021 Similarly affected s...
207900.16Saudi ArabiaMaleYes Failure to thrive; Motor delay; Delayed ...NM_000048.4:c.1135C>GHomozygousAutosomal, RecessiveMonies et al. 2019 Brother with cerebel...
207900.G.1.1Saudi ArabiaUnknown Elevated plasma citrullineNM_000048.4:c.1060C>THomozygousAutosomal, RecessiveImtiaz et al. 2010 Group of 15 patients
207900.G.1.2Saudi ArabiaUnknown Elevated plasma citrullineNM_000048.4:c.556C>THomozygousAutosomal, RecessiveImtiaz et al. 2010 Group of 8 patients
207900.G.2Saudi ArabiaUnknownNo HyperammonemiaNM_000048.4:c.1060C>THomozygousAutosomal, RecessiveAl-Sayed et al. 2005 Group of 14 patients
207900.G.3United Arab EmiratesUnknown HyperammonemiaNM_000048.4:c.332G>AHomozygousAutosomal, RecessiveAl-Shamsi et al. 2014 Unknown number of pa...
207900.G.4United Arab EmiratesUnknown HyperammonemiaNM_000048.4:c.332G>AHomozygousAutosomal, RecessiveAl-Jasmi at al. 2016; Saleh et al. 2021 Two patients from tw...

Other Reports


Al-Arrayed estimated the incidence rate of argininosuccinic aciduria in Bahrain as approximately 6/10,000 births (Al-Arrayed SS, personal communication, 2006).


A retrospective analysis of IEMs diagnosed over a 12-year period (1998-2010) in a Lebanese hospital, Karam et al. (2013) found four patients with arginiosuccinic aciduria. One of these patients was diagnosed during newborn screening.


Joshi et al. (2002) carried out a retrospective analysis of all patients born with inborn errors of metabolism in Oman between June 1998 and December 2000. Among 82 patients, three were diagnosed with argininosuccinic aciduria.

In a 10-year study conducted by Al-Riyami et al. (2012), six cases of argininosuccinic aciduria were reported among 1100 high-risk infants referred to Sultan Qaboos University Hospital, Muscat. The study utilised MS/MS spectrometry for analysing the blood samples and a total of 119 neonates tested positive for inborn errors of metabolism.

Saudi Arabia

Moammar et al. (2010) estimated the incidence of argininosuccinic aciduria as 4 in 100,000 live births in a review study conducted between 1983 and 2008 at Saudi Aramco medical facilities in the Eastern province of Saudi Arabia. Out of 248 newborns diagnosed with inborn errors of metabolism, six were found to have argininosuccinic aciduria.

United Arab Emirates

Al-Shamsi et al. (2014) reported the estimated prevalence of argininosuccinate lyase deficiency to be lower than 0.98 per 100,000 among Emiratis in the UAE. This estimation was based on a study conducted involving all neonates diagnosed with an inherited metabolic condition at Tawam Hospital between 1995 and 2011.

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