Childhood encephalopathy due to thiamine pyrophosphokinase deficiency

Get in touch with RARE Concierge.

Contact RARE Concierge

Childhood encephalopathy due to thiamine pyrophosphokinase deficiency

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.

Newly diagnosed with
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.