Other biotin-dependent carboxylase deficiency Save
ICD-10 code: D81.818
Disease category: D81.81: Biotin-dependent carboxylase deficiency
What is Other Biotin-dependent Carboxylase Deficiency?
Other biotin-dependent carboxylase deficiency is a rare genetic disorder that affects the body's ability to break down certain proteins and fats. This condition is caused by a deficiency in biotin, a B-vitamin that is essential for the metabolism of these substances. The symptoms of this disorder can range from mild to severe and can include developmental delays, seizures, and vision problems.
Symptoms of Other Biotin-dependent Carboxylase Deficiency
The symptoms of other biotin-dependent carboxylase deficiency can vary from person to person. Some individuals may experience mild symptoms, while others may have more severe symptoms. Some common symptoms of this disorder include:
- Developmental delays
- Seizures
- Vision problems
- Hearing loss
- Weak muscle tone
- Abnormal movements
These symptoms can start in infancy or early childhood and may worsen over time if left untreated.
Causes of Other Biotin-dependent Carboxylase Deficiency
Other biotin-dependent carboxylase deficiency is caused by a mutation in the genes that are responsible for the production of biotinidase, a protein that helps the body absorb and use biotin. Without enough biotinidase, the body cannot break down certain proteins and fats, which can lead to a buildup of toxic substances in the body. This can cause damage to the brain, nervous system, and other organs.
Diagnosis of Other Biotin-dependent Carboxylase Deficiency
Other biotin-dependent carboxylase deficiency is diagnosed through a blood or urine test that measures the level of biotinidase in the body. Genetic testing may also be done to confirm the diagnosis and identify the specific mutation that is causing the disorder.
Conclusion
Other biotin-dependent carboxylase deficiency is a rare genetic disorder that can cause a range of symptoms, from mild to severe. If you or someone you know is experiencing symptoms of this disorder, it is important to seek medical attention as soon as possible. While there is no cure for this disorder, early diagnosis and treatment can help manage symptoms and prevent complications.
Treatment of Other biotin-dependent carboxylase deficiency:
Treatment Options for Other Biotin-Dependent Carboxylase Deficiency
Other biotin-dependent carboxylase deficiency (OBCD) is a rare genetic condition that affects the body's ability to use biotin, a vitamin B complex. People with OBCD have a deficiency of enzymes that rely on biotin to function properly, leading to a variety of symptoms like seizures, developmental delays, skin rash...
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