Biotin-responsive basal ganglia disease

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The biotin- responsive basal ganglia disease , referred to in the English-language specialist literature as biotin-responsive basal ganglia disease (BBGD), is an extremely rare hereditary disease . The disease is autosomal - recessive inherited.

Genetics and Etiology

The disease is caused by a mutation in the SLC19A3 gene. The gene is located on chromosome 2 , gene locus q36.3 and codes for a folate transporter . Due to the restricted function of the folate transporter, the brains of the affected patients are not adequately supplied with biotin via the endothelia of the blood-brain barrier . This undersupply of biotin manifests itself in a variety of neurological symptoms, such as subacute encephalopathy , speech disorders ( dysarthria ), swallowing disorders ( dysphagia ), gearwheel phenomena , dystonia and tetraplegia . If left untreated, the disease can lead to death.

The disease is extremely rare. Around ten cases have been described worldwide.

The biotin-responsive basal ganglia disease was first described in 1998 in some Saudi Arabian families. To date, the disease has only been observed in Saudi Arabian, Syrian and Yemeni families in which the parents are blood relatives. In the previously known cases, there is a missense mutation .

therapy

The disease can be treated well through supplementation with biotin. The symptoms disappear within a few days when high-dose biotin is given (about 5 to 10 mg per kg body weight and day).

Individual evidence

  1. ↑ a b c W. Q. Zeng et al: Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. In: Am J Hum Genet. 77, 2005, pp. 16-26. PMID 15871139 .
  2. ^ PT Ozand et al.: Biotin-responsive basal ganglia disease: a novel entity. In: Brain. 121, 1998, pp. 1267-1279. PMID 9679779

literature

  • VS Subramanian et al: Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2. In: Am J Physiol Cell Physiol. 291, 2006, pp. C851-C859. PMID 16790503
  • TI El-Hajj et al .: Biotin-responsive Basal Ganglia disease: case report and review of the literature. In: Neuropediatrics. 39, 2008, pp. 268-271. PMID 19294600

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