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Summary
CEROID LIPOFUSCINOSIS, NEURONAL, 9
CLN9
609055
OMIM = Online Medalian Inheritance of Men
228357
rare
autosomal recessive
symptoms
ataxia
cerebral atrophy
defect of walking, running, rising or climbing
dysarthria
early death
mental retardation
onset, childhood
optic atrophy
psychomotor retardation
retinitis pigmentosa
seizures
laboratory finding
MRI, brain, abnormalities - ---
Lymphocytes, vacuoles blood
EEG abnormalities - ---
Electron microscopy - ---
Literature
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
Morris SM Jr,et al.Arginases and arginine deficiency syndromes.Curr Opin Clin Nutr Metab Care15164-702012