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Summary
NIEMANN-PICK DISEASE TYPE C (NPC)
257220
OMIM = Online Medalian Inheritance of Men
646
18q11.2
  • enzyme replacement therapy
  • no specific treatment
rare (~ 1:100000)
autosomal recessive
mutation in the NPC1 gene
age at presentation varies from the perinatal peroid to late adulthood
cholestasis might represent a pitfall in oxysterol measurements intended to aid diagnosis of NPC in affected patients [Polo G et al. 2016]
symptoms
abnormal movement
ascites
ataxia
behavior, abnormal or bizarre, confusion
cataplexy
cholestasis
dementia
dysarthria
dysphagia
dystonia
early death
gait disturbance
hearing defect, deafness
hepatomegaly (large liver)
hydrops fetalis
hypotonia
jaundice
learning disability
liver failure
onset, adolescent
onset, adulthood
onset, childhood
onset, fetus
onset, infancy
onset, neonatal
ophthalmoplegia
progressive neurologic defect
psychosis
pulmonary alveolar proteinosis
respiratory distress
seizures
spastic diplegia/quadriplegia/tetraplegia
speech development, delayed, abnormal
splenomegaly (large spleen)
thrombopenia, thrombocytopenia
laboratory finding
Sphingomyelin increasedspleen
Sphingomyelin increasedliver
Cholesterol increasedintracellular
Foam cells, bone marrow bone marrow
conjunctival biopsy, abnormal abnormal
Cholesterol, intracellular
MRI, brain, abnormalities -
Chitotriosidase increased activityplasma
7-ketocholesterol increasedplasma
Cholestan-3+¦,5+¦,6+¦-triol increasedplasma
Thrombocytes, Platelets /-Álblood
Literature
Porta F,et al.Newborn screening for galactosemia: a 30-year single center experienceWorld J Pediatr112160-1642015
Papetti L,et al.Severe early onset ethylmalonic encephalopathy with West syndromeMetab Brain Dis3061537-15452015
McAuley M,et al.Galactokinase promiscuity: a question of flexibility?Biochem Soc Trans441116-1222016
Jakobs Cet al.Various organic aciduriasin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London00163-1761996
Elpeleg ONet al.Variability of clinical presentation in fumarate hydratase deficiencyJ Pediatr1210725-7541992
Mayatepek Eet al.Atypical vitamin B12-unresponsive methylmalonic aciduria in sibship with sever progressive encephalomyopathy: a new genetic disease?Eur J Pediatr1555398-4031996
Jakobs Cet al.Various organic aciduriasin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London00163-1761996
Bonnefont JPet al.The fasting test in paediatrics: application to the diagnosis of pathological hypo- and hyperketotic states Eur J Pediatr150080-851990
Jakobs Cet al.Various organic aciduriasin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London00163-1761996
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Zulfiqar M,et al.Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiencyJ Magn Reson Imaging002012
Maljevic S,et al.Novel KCNQ3 Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal SeizuresMol Syndromol74189-1962016
Merinero B,et al.Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathyJ Inherit Metab Dis2956852006
Mineri R,et al.Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathyJ Med Genet457473-4782008