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Summary
CEROID LIPOFUSCINOSIS, NEURONAL, 11
CLN11
614706
OMIM = Online Medalian Inheritance of Men
314629
17q21.31
rare
autosomal recessive
mutation in the GRN gene
symptoms
abnormal movement
ataxia
blindness, visual loss, visual impairment
cerebellar atrophy or hypoplasia
retinal dystrophy
seizures
laboratory finding
Electron microscopy - abnormaltissues
EEG abnormalities - ---
MRI, brain, abnormalities - ---
Literature
De Biase I,et al.Quantitative amino acid analysis by liquid chromatography-tandem mass spectrometry: implications for the diagnosis of argininosuccinic aciduria.Clin Chim Acta442073-742015
Ozcan OU,et al.Atrioventricular block in siblings with argininosuccinic aciduriaInt J Cardiol1890109-1112015
Sommer A,et al.The molecular basis of aminoacylase 1 deficiency.Biochim Biophys Acta18126685-6902011
Ferri L,et al.Aminoacylase I deficiency due to ACY1 mRNA exon skipping.Clin Genet864367-3722014
Hu L,et al.Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduriaJ Inherit Metab Dis385815-8272015