Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
MONDO:0013761Also known as: childhood encephalopathy due to thiamine pyrophosphokinase deficiency, THMD5, encephalopathy, episodic, due to thiamine pyrophosphokinase deficiency, thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)
0 clinical trials for this condition and its sub-types.
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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)
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