How Do You Spell ARGININOSUCCINATE SYNTHASE DEFICIENCY DISEASE?

Pronunciation: [ˌɑːd͡ʒɪnɪnˈɒsəksɪnˌe͡ɪt sˈɪnθe͡ɪs dɪfˈɪʃənsi dɪzˈiːz] (IPA)

Argininosuccinate Synthase Deficiency Disease is a rare genetic disorder that affects the body's ability to process nitrogen. It is caused by a deficiency in the enzyme argininosuccinate synthase, which is necessary for the production of urea. The spelling of this word can be explained using the International Phonetic Alphabet (IPA) phonetic transcription, which is "ɑrɡɪnoʊsəs’keɪt sɪnθeɪs dɪfɪʃənsi dɪ'zi:z." Although difficult to pronounce and spell, early diagnosis and treatment can improve the outcome for those affected by this condition.

ARGININOSUCCINATE SYNTHASE DEFICIENCY DISEASE Meaning and Definition

1. Argininosuccinate Synthase Deficiency Disease, also known as argininosuccinic aciduria (ASA), is a rare inherited metabolic disorder characterized by the impaired function of the enzyme argininosuccinate synthase. This enzyme plays a crucial role in the urea cycle, which helps eliminate toxic ammonia from the body.

   Individuals with Argininosuccinate Synthase Deficiency Disease lack the ability to effectively convert argininosuccinic acid into the amino acid arginine, leading to a buildup of ammonia in the blood and tissues. This excess ammonia can be toxic to the brain and other organs, causing a wide range of symptoms and complications.

   The disease typically presents in infancy or early childhood, with affected individuals experiencing episodes of vomiting, lethargy, poor appetite, and an overall failure to thrive. If left untreated, the condition can progress rapidly, leading to seizures, coma, and even death.

   Diagnosis of argininosuccinic aciduria is usually established through clinical evaluation, blood tests, and genetic analysis, which identifies mutations in the ARG1 gene responsible for encoding argininosuccinate synthase.

   The main treatment for Argininosuccinate Synthase Deficiency Disease involves a strict low-protein diet, which helps minimize the production of ammonia. Additionally, individuals may require supplements of essential amino acids and medications to further manage ammonia levels. In some cases, liver transplantation may be necessary to provide a source of healthy enzymes.

   Early diagnosis and effective management of the condition are essential to prevent complications and improve long-term outcomes for affected individuals. Close monitoring by a multidisciplinary medical team is typically required throughout an individual's life.

Common Misspellings for ARGININOSUCCINATE SYNTHASE DEFICIENCY DISEASE

• zrgininosuccinate synthase deficiency disease
• srgininosuccinate synthase deficiency disease
• wrgininosuccinate synthase deficiency disease
• qrgininosuccinate synthase deficiency disease
• aegininosuccinate synthase deficiency disease
• adgininosuccinate synthase deficiency disease
• afgininosuccinate synthase deficiency disease
• atgininosuccinate synthase deficiency disease
• a5gininosuccinate synthase deficiency disease
• a4gininosuccinate synthase deficiency disease
• arfininosuccinate synthase deficiency disease
• arvininosuccinate synthase deficiency disease
• arbininosuccinate synthase deficiency disease
• arhininosuccinate synthase deficiency disease
• aryininosuccinate synthase deficiency disease
• artininosuccinate synthase deficiency disease
• arguninosuccinate synthase deficiency disease
• argjninosuccinate synthase deficiency disease
• argkninosuccinate synthase deficiency disease
• argoninosuccinate synthase deficiency disease