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49 results
  1. ... Search term GeneReviews Advanced Search Help < Prev Next > Biotin-Thiamine-Responsive Basal Ganglia Disease Synonyms: Biotin-Responsive ... germline pathogenic variants in SLC19A3 . Differential Diagnosis Acute biotin-thiamine-responsive basal ganglia disease (BTBGD). See Table ...
  2. ... disease. Learn more about the gene associated with Biotin-thiamine-responsive basal ganglia disease SLC19A3 Inheritance This ...
  3. Pantothenic acid (B5) and biotin (B7) are types of B vitamins. They are water-soluble, which means that the body can't store them. If ... Pantothenic acid and biotin are needed for growth. They help the body break down and use food. This is called metabolism . They are ...
  4. Biotin (vitamin B7) is a vitamin found in foods like eggs, milk, and bananas. Biotin deficiency can cause thinning of the hair and a rash on the face. Biotin is an important part of enzymes in the ...
  5. ... riboflavin) B3 (niacin) B5 (pantothenic acid) B6 B7 (biotin) B12 Folic acid These vitamins help the process ...
  6. ... system (neurotransmitters). Health Conditions Related to Genetic Changes Biotin-thiamine-responsive basal ganglia disease At least seven ... SLC19A3 gene have been identified in people with biotin-thiamine-responsive basal ganglia disease, a disorder that ...
  7. ... of neutral amino acids ↑ in urine Disorders of biotin metabolism Biotinidase deficiency AR BTD Newborn screening Disorders of thiamine metabolism Biotin-thiamine-responsive basal ganglia disease AR SLC19A3 Recurrent ...
  8. ... abnormalities and supplementation with citrate, aspartic acid, and biotin may improve somatic findings but not neurologic manifestations. ... deficiency results from the inability to recycle endogenous biotin and to use protein-bound biotin from the ...
  9. ... nuclear gene -encoded LSS (see Treatment of Manifestations ): Biotin-thiamine-responsive basal ganglia disease , also known as ... following three nuclear gene -encoded Leigh-like syndromes: Biotin-thiamine-responsive basal ganglia disease (also known as ...
  10. ... the body is unable to recycle the vitamin biotin. If this condition is not recognized and treated, ... making an enzyme called biotinidase. This enzyme recycles biotin, a B vitamin found in foods such as ...
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