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GTR Home > Conditions/Phenotypes > Childhood encephalopathy due to thiamine pyrophosphokinase deficiency

Childhood encephalopathy due to thiamine pyrophosphokinase deficiency

Synonyms
ENCEPHALOPATHY, EPISODIC, DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY; Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Thiamine metabolism dysfunction syndrome-5 (THMD5) is an autosomal recessive metabolic disorder due to an inborn error of thiamine metabolism. The phenotype is highly variable, but in general, affected individuals have onset in early childhood of acute encephalopathic episodes associated with increased serum and CSF lactate. These episodes result in progressive neurologic dysfunction manifest as gait disturbances, ataxia, dystonia, and spasticity, which in some cases may result in loss of ability to walk. Cognitive function is usually preserved, although mildly delayed development has been reported. These episodes are usually associated with infection and metabolic decompensation. Some patients may have recovery of some neurologic deficits (Mayr et al., 2011). For a discussion of genetic heterogeneity of disorders due to thiamine metabolism dysfunction, see THMD1 (249270). [from OMIM]

Available tests

34 tests are in the database for this condition.

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Clinical tests (34 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HTPK1, PP20, THMD5, TPK1
    Summary: thiamin pyrophosphokinase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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