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Summary
CEROID LIPOFUSCINOSIS, NEURONAL, 7
CLN7
610951
OMIM = Online Medalian Inheritance of Men
228366
4q28.2
rare
autosomal recessive
mutation in the MFSD8 gene
symptoms
ataxia
behavior, abnormal or bizarre, confusion
blindness, visual loss, visual impairment
cerebellar atrophy or hypoplasia
cerebral atrophy
developmental regression
lethargy, drowsiness, malaise or sleep disorder
myoclonus
onset, childhood
optic atrophy
retinopathy
seizures
speech development, delayed, abnormal
laboratory finding
MRI, brain, abnormalities - ---
VEP (visual evoked potentials), abnormal - ---
EEG abnormalities - ---
Electron microscopy - abnormaltissues
Literature
Burrage LC,et al.Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiencyHum Mol Genet24226417-64272015
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