Childhood encephalopathy due to thiamine pyrophosphokinase deficiency

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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 2024

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Childhood encephalopathy due to thiamine pyrophosphokinase deficiency?

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Advocacy Organizations

Mississippi Metabolics Foundation

Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.

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Clinical Trials

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