Thiamine-responsive dysfunction syndrome

MONDO:0000152

A 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, 0 tagged with Thiamine-responsive dysfunction syndrome itself.

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↑ Disorder of thiamine metabolism and transport (7)

Sub-types of Thiamine-responsive dysfunction syndrome

Thiamine-responsive megaloblastic anemia syndrome 6 trials
Biotin-responsive basal ganglia disease 1 trial
Amish lethal microcephaly 0 trials
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 0 trials
Progressive demyelinating neuropathy with bilateral striatal necrosis 0 trials

Including sub-types (7) Tagged with Thiamine-responsive dysfunction syndrome (0)

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