How Do You Spell HOLOCARBOXYLASE SYNTHETASE DEFICIENCY?

Pronunciation: [hˈɒləkˌɑːbəksˌɪle͡ɪs sˈɪnθɪtˌe͡ɪs dɪfˈɪʃənsi] (IPA)

Holocarboxylase synthetase deficiency is a rare genetic condition that affects the body's ability to use certain vitamins properly. The correct pronunciation of this term is [ˌhoʊ.loʊ.kɑr.bɑk.si.leɪs ˈsɪnθ.ə.seɪz dɪˈfɪʃ.ən.si]. The word "holo" is pronounced with the long o sound and the stress on the first syllable. "Carboxylase" is pronounced with emphasis on the second syllable and the long a sound. "Synthetase" is pronounced with the stress on the first syllable and the short i sound. "Deficiency" is pronounced with the stress on the second syllable and the long e sound.

HOLOCARBOXYLASE SYNTHETASE DEFICIENCY Meaning and Definition

1. Holocarboxylase synthetase deficiency is a rare inherited metabolic disorder that affects the body's ability to use or process certain vitamins, specifically biotin. This condition is caused by mutations in the gene responsible for producing an enzyme called holocarboxylase synthetase.

   Holocarboxylase synthetase is a vital enzyme that is required for the activation of biotin, a vitamin essential for various important metabolic processes in the body. In individuals with holocarboxylase synthetase deficiency, this enzyme is either absent or non-functional, leading to impaired biotin utilization.

   As a result, affected individuals are unable to break down and utilize biotin, leading to a deficiency of this crucial vitamin. Biotin is essential for the metabolism of fatty acids, amino acids, and carbohydrates, and its deficiency causes a disruption in these processes.

   Symptoms of holocarboxylase synthetase deficiency typically appear within the first few months of life and can vary in severity. Common symptoms include poor appetite, growth retardation, lethargy, recurrent infections, hypotonia (low muscle tone), developmental delays, skin rashes, hair loss, and neurological abnormalities.

   Early diagnosis and treatment are crucial to prevent or minimize the progression of symptoms. Treatment involves lifelong biotin supplementation in high doses to compensate for the enzyme deficiency. With early diagnosis and appropriate management, individuals with holocarboxylase synthetase deficiency can have improved health and a better quality of life.

Common Misspellings for HOLOCARBOXYLASE SYNTHETASE DEFICIENCY

• golocarboxylase synthetase deficiency
• bolocarboxylase synthetase deficiency
• nolocarboxylase synthetase deficiency
• jolocarboxylase synthetase deficiency
• uolocarboxylase synthetase deficiency
• yolocarboxylase synthetase deficiency
• hilocarboxylase synthetase deficiency
• hklocarboxylase synthetase deficiency
• hllocarboxylase synthetase deficiency
• hplocarboxylase synthetase deficiency
• h0locarboxylase synthetase deficiency
• h9locarboxylase synthetase deficiency
• hokocarboxylase synthetase deficiency
• hopocarboxylase synthetase deficiency
• hooocarboxylase synthetase deficiency
• holicarboxylase synthetase deficiency
• holkcarboxylase synthetase deficiency
• hollcarboxylase synthetase deficiency
• holpcarboxylase synthetase deficiency
• hol0carboxylase synthetase deficiency