Thiamine metabolism dysfunction syndrome 5 is a rare neurodegenerative disorder with episodes of encephalopathy.

Chromosome: 7q35

Gene: TPK1

Product: thiamine phosphokinase


Inheritance: autosomal recessive


Onset: early childhood


Clinical features:

(1) episodes of acute encephalopathy, often triggered by a febrile infection

(2) ataxia

(3) muscle hypotonia or dystonia

(4) spasticity

(5) clinical response to thiamine supplementation with or without magnesium and with or without biotin

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