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Summary
GLUTAMINASE DEFICIENCY WITH NEONATAL EPILEPTIC ENCEPHALOPATHY (GLS)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 71 EIEE71
618328
OMIM = Online Medalian Inheritance of Men
---
3q32.2
rare
autosomal recessive
mutation in the glutaminase gene
symptoms
brain malformation
cataract
developmental delay
early death
encephalopathy
epilepsy
hypotonia
onset, infancy
onset, neonatal
respiratory insufficiency
seizures
status epilepticus
laboratory finding
Glutamic acid mmol/mol Creaurine
Glutamine mmol/mol Creaurine
Glutamine +€mol/lblood
Literature
Burkhard FZ,et al.P450 Oxidoreductase deficiency: Analysis of mutations and polymorphismsJ Steroid Biochem Mol Biol165038-502017
Bai Y,et al.Cytochrome P450 oxidoreductase deficiency caused by R457H mutation in POR gene in Chinese: case report and literature reviewJ Ovarian Res101162017
Konko-¥ova J,et al.A novel mutation in the PEX12 gene causing a peroxisomal biogenesis disorderMol Biol Rep42911359-13632015