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Summary
NIEMANN-PICK DISEASE, TYPE C2 (NPC2)
607625
OMIM = Online Medalian Inheritance of Men
646
14q24.3
very rare (1:120000)
autosomal recessive
mutation in the NPC2 gene
symptoms
ataxia
behavior, abnormal or bizarre, confusion
developmental delay
dysarthria
dysphagia
dystonia
early death
gait disturbance
hepatomegaly (large liver)
hypotonia
jaundice
liver failure
onset, fetus
onset, infancy
onset, neonatal
psychosis
respiratory insufficiency
seizures
splenomegaly (large spleen)
laboratory finding
Cholestan-3+¦,5+¦,6+¦-triol plasma
Literature
Modabbernia A,Velthorst E, Reichenberg AEnvironmental risk factors for autism: an evidence-based review of systematic reviews and meta-analysesMol Autism80132017
Fujiwara T,et al.Chemicals, Nutrition, and Autism Spectrum Disorder: A Mini-ReviewFront Neurosci1001742016
Pop A,et al.An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variantsJ Inherit Metab Dis412169-1802018
Mazahery H,et al.Vitamin D and Autism Spectrum Disorder: A Literature ReviewNutrients842362017
Rayadurg V,Uttarwar A, Surve RIs Propofol Safe in Patients With Phenylketonuria?J Neurosurg Anesthesiol30185-862018
Tebartz van Elst L,et al.High-functioning autism spectrum disorder as a basic disorder in adult psychiatry and psychotherapy: psychopathological presentation, clinical relevance and therapeutic conceptsEur Arch Psychiatry Clin Neurosci2630S189-1962013