Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:3.5.1.12 (
biotinidase
)
392
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A 12-month old boy presented with intractable seizures present since 3-month of age. He had, previously, been admitted numerous times to the pediatric emergency room for intractable and prolonged seizures during the course of his disease. Differential diagnosis was made to exclude several inborn metabolic disorders, including vitamin B6 deficiency,
biotinidase
deficiency and nonketotic hyperglycinemia. Although the initial brain MRI revealed a mild cerebral and cerebellar white matter involvement, follow-up images showed diffuse cerebral and cerebellar white matter dysmyelination, progressive rarefaction and cystic degeneration. A genetic analysis was performed for vanishing white matter (VWM) disease and a homozygote c. 1091G>A mutation was detected at the
EIF2B4
gene. This case emphasizes the fact that VWM disease may present with refractory seizures since early infancy.
...
PMID:A rare mutation in EIF2B4 gene in an epileptic child with vanishing white matter disease: a case report. 2604 6
