National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Childhood encephalopathy due to thiamine pyrophosphokinase deficiency


Other Names:
Episodic encephalopathy due to thiamine pyrophosphokinase deficiency; Thiamine metabolism dysfunction syndrome-5; THMD5; Episodic encephalopathy due to thiamine pyrophosphokinase deficiency; Thiamine metabolism dysfunction syndrome-5; THMD5; Thiamine pyrophosphokinase deficiency See More
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 293955

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.

Visit the Orphanet disease page for more resources.
Last updated: 7/1/2018

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
5%-29% of people have these symptoms
Global developmental delay 0001263
Left ventricular hypertrophy 0001712
Loss of speech 0002371
Seizure 0001250
Percent of people who have these symptoms is not available through HPO
Ataxia 0001251
Autosomal recessive inheritance 0000007
Dystonia 0001332
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Lactic acidosis
Increased lactate in body
0003128
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Vertigo
Dizzy spell
0002321
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Last updated: 7/1/2020

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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