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CONGENITAL GLUTAMINE DEFICIENCY; GLUTAMINE SYNTHASE DEFICIENCY

CONGENITAL GLUTAMINE DEFICIENCY; GLUTAMINE SYNTHASE DEFICIENCY
GLUTAMINE SYNTHASE DEFICIENCY, CONGENITAL SYSTEMIC
610015
OMIM = Online Mendelian Inheritance of Men
71278
Glutamine synthetase
6.3.1.2
1q25.3
E72.8
very rare
autosomal recessive
Laboratory findingsAmmonia normal/inc (blood)
    Glutamine dec (urine)
    Glutamine dec (cerebrospinal fluid)
    Glutamine dec (serum)
Symptoms    apnea
    brain malformation
    CT, brain, abnormalities [-]
    developmental delay
    diarrhea
    dysmorphism
    early death
    encephalopathy
    epilepsy
    hyperammonemia
    hyperreflexia
    hypotonia
    limb abnormalities, limb deformities
    myelination, incomplete, hypomyelination
    onset, childhood
    onset, infancy
    onset, neonatal
    respiratory insufficiency
    seizures
    skin rash, eczematous or seborrhoic