How Do You Spell ARGININOSUCCINIC ACID SYNTHASE DEFICIENCY DISEASE?

Pronunciation: [ˌɑːd͡ʒɪnˌɪnəsəksˈɪnɪk ˈasɪd sˈɪnθe͡ɪs dɪfˈɪʃənsi dɪzˈiːz] (IPA)

Argininosuccinic acid synthase deficiency disease is a rare genetic disorder caused by a deficiency of the enzyme argininosuccinic acid synthase, which leads to the accumulation of nitrogen-containing compounds in the body. The spelling of this term can be decoded using the International Phonetic Alphabet (IPA): /ɑːrɡɪnoʊsʌsɪnik æsɪd sɪnθeɪs dɪfɪʃənsi dɪˈziːz/. It is important to note that the emphasis is on the second syllable of "argininosuccinic" and the third syllable of "synthase", while the "e" in "deficiency" is silent.

ARGININOSUCCINIC ACID SYNTHASE DEFICIENCY DISEASE Meaning and Definition

1. Argininosuccinic Acid Synthase Deficiency Disease, also known as Argininosuccinic Aciduria, is a rare genetic disorder that affects the body's ability to break down and eliminate nitrogen from the body. This disorder is caused by a deficiency of the enzyme argininosuccinic acid synthase, which is necessary for the production of the amino acid arginine.

   In normal metabolism, nitrogen-containing compounds are converted into urea and eliminated through urine. However, individuals with Argininosuccinic Acid Synthase Deficiency Disease lack the ability to convert argininosuccinic acid into arginine, leading to a buildup of ammonia and other toxic substances in the blood.

   The symptoms of this disorder usually appear shortly after birth or in early childhood. They may include poor feeding, vomiting, seizures, developmental delay, and an overall failure to thrive. Without prompt treatment, the accumulation of ammonia can lead to irreversible brain damage, coma, and even death.

   Treatment for Argininosuccinic Acid Synthase Deficiency Disease involves a strict low-protein diet, supplemented with arginine and other essential amino acids. In some cases, medication may be prescribed to help remove excess ammonia from the body. Regular monitoring of ammonia levels and dietary adherence is crucial in managing this condition.

   Overall, Argininosuccinic Acid Synthase Deficiency Disease is a rare but serious genetic disorder that affects the body's ability to break down nitrogen compounds. Early diagnosis and intervention are essential for preventing long-term complications and improving outcomes for affected individuals.

Common Misspellings for ARGININOSUCCINIC ACID SYNTHASE DEFICIENCY DISEASE

• zrgininosuccinic acid synthase deficiency disease
• srgininosuccinic acid synthase deficiency disease
• wrgininosuccinic acid synthase deficiency disease
• qrgininosuccinic acid synthase deficiency disease
• aegininosuccinic acid synthase deficiency disease
• adgininosuccinic acid synthase deficiency disease
• afgininosuccinic acid synthase deficiency disease
• atgininosuccinic acid synthase deficiency disease
• a5gininosuccinic acid synthase deficiency disease
• a4gininosuccinic acid synthase deficiency disease
• arfininosuccinic acid synthase deficiency disease
• arvininosuccinic acid synthase deficiency disease
• arbininosuccinic acid synthase deficiency disease
• arhininosuccinic acid synthase deficiency disease
• aryininosuccinic acid synthase deficiency disease
• artininosuccinic acid synthase deficiency disease
• arguninosuccinic acid synthase deficiency disease
• argjninosuccinic acid synthase deficiency disease
• argkninosuccinic acid synthase deficiency disease
• argoninosuccinic acid synthase deficiency disease