Скачать или смотреть Biotinidase deficiency and Biotin deficiency ; Definition, Causes, symptoms, Diagnosis, treatment

Biotinidase deficiency and biotin deficiency both affect the body's ability to utilize biotin, a crucial vitamin for metabolism, skin health, and neurological function.

Biotinidase Deficiency
Cause: Genetic mutation in the BTD gene, leading to impaired biotin recycling.

Symptoms: Seizures, developmental delays, hypotonia, skin rashes, hair loss, and vision/hearing problems.

Diagnosis: Newborn screening, enzyme activity tests, and genetic testing.

Treatment: Lifelong biotin supplementation prevents complications.

Biotin Deficiency
Cause: Dietary insufficiency, prolonged antibiotic use, or excessive raw egg consumption (avidin binds biotin).

Symptoms: Fatigue, brittle nails, hair thinning, depression, and skin issues.

Diagnosis: Clinical assessment and response to biotin supplementation.

Treatment: Biotin-rich diet (eggs, nuts, liver) or supplements.

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