How Do You Spell CYSTATHIONINE BETA SYNTHASE DEFICIENCY DISEASE?

Pronunciation: [sˈɪstɐθɪˌɒna͡ɪn bˈiːtə sˈɪnθe͡ɪs dɪfˈɪʃənsi dɪzˈiːz] (IPA)

Cystathionine beta Synthase Deficiency Disease (CBSD) is a genetic disorder that affects the metabolism of the amino acid methionine. The spelling of CBSD is challenging due to the complicated pronunciation. It can be broken down as /sɪsˌtæθaɪəˌnaɪn ˈbi.tə ˈsɪn.θeɪs dɪˈfɪʃən.si dɪˈziːz/. The IPA phonetic transcription helps to understand the word formation, indicating that it consists of six syllables and has emphasis on the fourth syllable. Individuals with CBSD require a special diet to manage their symptoms.

CYSTATHIONINE BETA SYNTHASE DEFICIENCY DISEASE Meaning and Definition

1. Cystathionine beta Synthase Deficiency Disease, also known as CBS deficiency, is a rare inherited metabolic disorder that affects the body's ability to process an amino acid called methionine. This condition is caused by mutations in the cystathionine beta synthase gene, which results in a deficiency of the enzyme cystathionine beta synthase.

   Cystathionine beta synthase is essential for the breakdown of methionine and the conversion of another amino acid called homocysteine to cystathionine. In individuals with CBS deficiency, the enzyme's activity is impaired, leading to the accumulation of homocysteine and methionine in the body.

   The clinical manifestations of CBS deficiency can vary widely, ranging from mild to severe. Symptoms may present during infancy or childhood and can include developmental delays, intellectual disability, seizures, visual problems, skeletal abnormalities, blood clotting disorders, psychiatric problems, and cardiovascular abnormalities.

   The diagnosis of CBS deficiency is made through genetic testing to identify mutations in the cystathionine beta synthase gene. Additionally, laboratory tests can reveal elevated levels of methionine and homocysteine in the blood and urine.

   Treatment of CBS deficiency typically involves a strict low-methionine diet, which aims to reduce the intake of methionine-containing foods. In some cases, supplements such as vitamin B6, vitamin B12, and folic acid may be prescribed to aid in the metabolism of homocysteine. Early detection and management are essential in preventing or minimizing the long-term complications associated with CBS deficiency.

   In summary, CBS deficiency is a rare genetic disorder characterized by a deficiency of the enzyme cystathionine beta synthase, leading to the accumulation of homocysteine and methion

Common Misspellings for CYSTATHIONINE BETA SYNTHASE DEFICIENCY DISEASE

• xystathionine beta synthase deficiency disease
• vystathionine beta synthase deficiency disease
• fystathionine beta synthase deficiency disease
• dystathionine beta synthase deficiency disease
• ctstathionine beta synthase deficiency disease
• cgstathionine beta synthase deficiency disease
• chstathionine beta synthase deficiency disease
• custathionine beta synthase deficiency disease
• c7stathionine beta synthase deficiency disease
• c6stathionine beta synthase deficiency disease
• cyatathionine beta synthase deficiency disease
• cyztathionine beta synthase deficiency disease
• cyxtathionine beta synthase deficiency disease
• cydtathionine beta synthase deficiency disease
• cyetathionine beta synthase deficiency disease
• cywtathionine beta synthase deficiency disease
• cysrathionine beta synthase deficiency disease
• cysfathionine beta synthase deficiency disease
• cysgathionine beta synthase deficiency disease
• cysyathionine beta synthase deficiency disease