How Do You Spell CARBAMYL PHOSPHATE SYNTHETASE DEFICIENCY DISEASE?

Pronunciation: [kˈɑːbɐmˌɪl fˈɒsfe͡ɪt sˈɪnθɪtˌe͡ɪs dɪfˈɪʃənsi dɪzˈiːz] (IPA)

Carbamyl Phosphate Synthetase Deficiency Disease is a rare inherited disorder that affects the body's ability to remove ammonia. The spelling of this word can be explained using the International Phonetic Alphabet (IPA) as follows: kɑrˈbæmɪl ˈfɑsfət ˈsɪnθəteɪs dɪˈfɪʃənsi dɪˈziːz. The word is spelled with "c" but pronounced with "k" sound due to the Greek origin of the word. The "y" in "synthetase" is pronounced as "i" and the stress is on the first syllables of each word.

CARBAMYL PHOSPHATE SYNTHETASE DEFICIENCY DISEASE Meaning and Definition

1. Carbamyl phosphate synthetase deficiency disease is a rare metabolic disorder caused by a deficiency in the enzyme carbamyl phosphate synthetase. This enzyme is essential for the proper functioning of the urea cycle, a process responsible for the elimination of toxic ammonia from the body.

   In individuals with carbamyl phosphate synthetase deficiency disease, the enzyme's deficiency impairs their ability to convert ammonia into urea, resulting in the accumulation of ammonia in the bloodstream. Elevated ammonia levels can lead to severe neurological symptoms, including poor feeding, vomiting, seizures, lethargy, and intellectual disability.

   The disease is typically evident shortly after birth, with affected infants displaying symptoms within a few days. If left untreated, carbamyl phosphate synthetase deficiency disease can cause life-threatening complications, such as respiratory distress, brain damage, and death.

   Diagnosis of carbamyl phosphate synthetase deficiency disease involves measuring ammonia levels in the blood, urine, or cerebrospinal fluid, as well as genetic testing to identify mutations in the CPS1 gene responsible for encoding carbamyl phosphate synthetase. Early detection is crucial for the prompt initiation of treatment.

   Management of the condition mainly involves a protein-restricted diet supplemented with appropriate amounts of calories and essential nutrients. Medications such as phenylbutyrate and sodium benzoate may be prescribed to enhance ammonia excretion. In severe cases, liver transplantation may be necessary to provide a functional source of the deficient enzyme.

   With early diagnosis and appropriate treatment, individuals with carbamyl phosphate synthetase deficiency disease can experience improved health outcomes and increased life expectancy. Close monitoring and ongoing medical management are essential components of the long-term care of individuals affected by this disorder.

Common Misspellings for CARBAMYL PHOSPHATE SYNTHETASE DEFICIENCY DISEASE

• xarbamyl phosphate synthetase deficiency disease
• varbamyl phosphate synthetase deficiency disease
• farbamyl phosphate synthetase deficiency disease
• darbamyl phosphate synthetase deficiency disease
• czrbamyl phosphate synthetase deficiency disease
• csrbamyl phosphate synthetase deficiency disease
• cwrbamyl phosphate synthetase deficiency disease
• cqrbamyl phosphate synthetase deficiency disease
• caebamyl phosphate synthetase deficiency disease
• cadbamyl phosphate synthetase deficiency disease
• cafbamyl phosphate synthetase deficiency disease
• catbamyl phosphate synthetase deficiency disease
• ca5bamyl phosphate synthetase deficiency disease
• ca4bamyl phosphate synthetase deficiency disease
• carvamyl phosphate synthetase deficiency disease
• carnamyl phosphate synthetase deficiency disease
• carhamyl phosphate synthetase deficiency disease
• cargamyl phosphate synthetase deficiency disease
• carbzmyl phosphate synthetase deficiency disease
• carbsmyl phosphate synthetase deficiency disease