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Summary
CEROID LIPOFUSCINOSIS, NEURONAL, 11
CLN11
614706
OMIM = Online Medalian Inheritance of Men
314629
17q21.31
rare
autosomal recessive
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 aciduria.Int 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 aciduria.J Inherit Metab Dis385815-8272015