Orphanet: Childhood encephalopathy due to thiamine pyrophosphokinase deficiency

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Disease definition

Childhood encephalopathy due to thiamine pyrophosphokinase deficiency is a rare inborn error of metabolism disorder characterized by early-onset, acute, encephalopathic episodes (frequently triggered by viral infections), associated with lactic acidosis and alpha-ketoglutaric aciduria, which typically manifest with variable degrees of ataxia, generalized developmental regression (which deteriorates with each episode) and dystonia. Other manifestations include spasticity, seizures, truncal hypotonia, limb hypertonia, brisk tendon reflexes and reversible coma.

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Childhood encephalopathy due to thiamine pyrophosphokinase deficiency

ORPHA:293955

A summary on this disease is available in Español (2018) Italiano (2018) Nederlands (2018)

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