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.
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 new born 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.
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.
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.