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Summary
THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) THMD2
ENCEPHALOPATHY, THIAMINE-RESPONSIVE
607483
OMIM = Online Medalian Inheritance of Men
199348
2q36.3
rare
autosomal recessive
mutation in the SLC19A3 gene

symptoms
ataxia
coma
defect of walking, running, rising or climbing
dysarthria
dysphagia
dystonia
encephalopathy
epilepsy
hypotonia
irritability
lactic acidosis
nystagmus
onset, variable age
ophthalmoplegia
paraparesis/paraplegia
psychomotor retardation
ptosis (drooping eyelid)
seizures
swallowing difficulties
weight loss
laboratory finding
MRI, brain, abnormalities -
MRS, brain, abnormalities -
L-Lactic acid normal-increasedblood
Sedoheptulose-7-phosphate normal-increasedurine
2-Hydroxyisovaleric acid normal-increasedurine
2,4-Dihydroxybutyric acid normal-increasedurine
Literature
van Kuilenburg AB,et al.Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiencyMol Genet Metab912157-1642007
Kuhara T,et al.Rapid gas chromatographic-mass spectrometric diagnosis of dihydropyrimidine dehydrogenase deficiency and dihydropyrimidinase deficiencyJ Chromatogr B Analyt Technol Biomed Life Sci7921107-1152003
Yeung CW,et al.Diagnosis of dihydropyrimidinase deficiency in a Chinese boy with dihydropyrimidinuriaHong Kong Med J193272-2752013
van Kuilenburg AB,et al.Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patientsBiochim Biophys Acta18027639-3482010
Fort P,et al.Long-term evolution of glycerol intolerance syndromeJ Pediatr1063453-4561985
Peng Y,et al.Bent spine syndrome as an initial manifestation of late-onset multiple acyl-CoA dehydrogenase deficiency: a case report and literature reviewBMC Neurol1501142015
Chang HS,et al.Dihydropyrimidinase deficiency: the first feline case of dihydropyrimidinuria with clinical and molecular findingsJIMD Rep6021-262012
Sherman EA,et al.Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10Am J Hum Genet835604-6092008