childhood encephalopathy due to thiamine pyrophosphokinase deficiency

Rare Disease

MONDO:0013761

Also Known As

childhood encephalopathy due to thiamine pyrophosphokinase deficiencyTHMD5encephalopathy, episodic, due to thiamine pyrophosphokinase deficiencythiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)

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Associated Genes

TPK1 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

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childhood encephalopathy due to thiamine pyrophosphokinase deficiency

Also Known As

Patient-Friendly Information

Associated Genes

External Resources

OMIM

Orphanet

GARD

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