Thiamine-responsive dysfunction syndrome
MONDO:0000152A disorder of thiamine metabolism and transport results from deficiency of thiamine metabolism, comprises a group of clinically and genetically heterogeneous encephalopathies with autosomal recessive inheritance.
Also known as: thiamine-responsive dysfunction syndrome
7 clinical trials for this condition and its sub-types.
Follow this condition to get notified about new trialsSub-types
Broader categories
Disease
(717)
Metabolic disease
(241)
Hereditary disease
(188)
Inborn errors of metabolism
(47)
Human disease
(15)
Disease of genetic or genomic mechanism
(2)
Disease by developmental or physiological process
(0)
Disease by etiologic mechanism
(0)
Disorder of metabolite absorption and transport
(0)
Disorder of thiamine metabolism and transport
(0)