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Summary
CEROID LIPOFUSCINOSIS, NEURONAL, 3
CLN3 BATTEN DISEASE VOGT-SPIELMEYER DISEASE
204200
OMIM = Online Medalian Inheritance of Men
228346
16q12.1
rare
autosomal recessive
mutation in the CLN3 gene
symptoms
behavior, anxiety
behavior. aggressive
blindness, visual loss, visual impairment
cardiac arrhythmia, dysrhythmia
cardiomyopathy, hypertrophic
cataract
cerebellar atrophy or hypoplasia
cerebral atrophy
dementia
depression
developmental regression
dysarthria
glaucoma
hypokinesia
mental retardation
myoclonus
onset, childhood
optic atrophy
Parkinsonism
psychomotor retardation
psychosis
retinitis pigmentosa
seizures
laboratory finding
VEP (visual evoked potentials), abnormal - ---
EEG abnormalities - ---
Literature
Blau Net al.Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopySPS000
Sommer A,et al.The molecular basis of aminoacylase 1 deficiency.Biochim Biophys Acta18126685-6902011
Vaos G,et al.The role of calprotectin in pediatric disease.Biomed Res Int002013
Fessatou S,et al.Severe anemia and neutropenia associated with hyperzincemia and hypercalprotectinemia.J Pediatr Hematol Oncol279477-4802005
Ferri L,et al.Aminoacylase I deficiency due to ACY1 mRNA exon skipping.Clin Genet864367-3722014
Isidor B,et al.Hyperzincemia and hypercalprotectinemia: unsuccessful treatment with tacrolimus.Acta Paediatr982410-4122009