Preferred Label : Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type);
Symbol : THMD5;
CISMeF acronym : THMD5;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Encephalopathy, episodic, due to thiamine pyrophosphokinase deficiency;
Description : Episodic encephalopathy due to thiamine pyrophosphokinase deficiency 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 (summary
by Mayr et al., 2011). For a discussion of genetic heterogeneity of disorders due
to thiamine metabolism dysfunction, see THMD1 (249270).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the thiamine pyrophosphokinase gene (TPK1, 606370.0001);
Laboratory abnormalities : Increased urinary alpha-ketoglutaric acid, intermittent; Decreased serum thiamine pyrophosphate;
Prefixed ID : #614458;
Origin ID : 614458;
UMLS CUI : C3280866;
Automatic exact mappings (from CISMeF team)
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
