Disorders of Thiamine Transport and Metabolism
Autozomálně recesivní
Inherited defects in thiamine transporters or thiamine activation, caused by genes such as SLC19A2, SLC19A3, TPK1 and SLC25A19, which can cause anaemia, diabetes and hearing loss or episodes of severe brain dysfunction.
Co se diagnózou změní
Knowing allows early treatment with high-dose thiamine, and biotin where appropriate, which can prevent or reduce serious complications in several of these disorders.
Zahrnuje 7 příbuzných podtypů ↓Skrýt podtypy ↑
- Amish lethal microcephaly
- biotin-responsive basal ganglia disease
- childhood encephalopathy due to thiamine pyrophosphokinase deficiency
- infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
- progressive demyelinating neuropathy with bilateral striatal necrosis
- thiamine-responsive dysfunction syndrome
- thiamine-responsive megaloblastic anemia syndrome
