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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Specialty: Genetics, Neurology
