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GENATLAS PHENOTYPE
last update : 3/07/2006
Symbol GLUL
Location 1q31
Name glutamate ammonia ligase deficiency
Corresponding gene GLUL
Main clinical features
  • inborn error of amino acid synthesis . congenital glutamine deficiency, low birth weigtht, muscular hypotonia, respiratory insufficiency, seizures, on MRI, markedly immature brain, with hypolpasia of the corpus callosum, hyperintensity of the white matter, enlarged lateral ventricles and almost complete agyria, enteropathy, bone abnormalities, and early death
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/aminoacids
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    unknown   abnormal protein/loss of function R341C or R324C