What is another word for Argininosuccinic Acid Synthetase Deficiency Disease?
Pronunciation: [ˌɑːd͡ʒɪnˌɪnəsəksˈɪnɪk ˈasɪd sˈɪnθɪtˌe͡ɪs dɪfˈɪʃənsi dɪzˈiːz] (IPA) 
Argininosuccinic Acid Synthetase Deficiency Disease, also known as Argininosuccinic Aciduria or Citrullinemia type 1, is a rare genetic disorder that affects the urea cycle. This condition occurs when there is a deficiency of the enzyme argininosuccinic acid synthetase, leading to the accumulation of toxic levels of ammonia in the body. Individuals with this disease may experience developmental delay, intellectual disability, seizures, and liver damage. Synonyms for this condition include ASSD deficiency, Argininosuccinic Acid Synthetase Deficiency, and Argininosuccinic Acid Synthetase Deficiency Syndrome. These terms are used interchangeably to describe the same rare genetic disorder. Early diagnosis and treatment are crucial to managing symptoms and preventing complications associated with this condition.
