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GLUTAMINASE DEFICIENCY WITH NEONATAL EPILEPTIC ENCEPHALOPATHY (GLS)

GLUTAMINASE DEFICIENCY WITH NEONATAL EPILEPTIC ENCEPHALOPATHY (GLS)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 71; EIEE71
618328
OMIM = Online Mendelian Inheritance of Men
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Glutaminase kidney isoform, mitochondrial
3.5.1.2
3q32.2
rare
autosomal recessive
mutation in the glutaminase gene
Laboratory findingsGlutamine inc (blood)
    Glutamic acid inc (urine)
    Glutamine dec (urine)
Symptoms    brain malformation
    cataract
    developmental delay
    early death
    encephalopathy
    epilepsy
    hypotonia
    onset, infancy
    onset, neonatal
    respiratory insufficiency
    seizures
    status epilepticus