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Summary
GAUCHER DISEASE TYPE II
GAUCHER DISEASE, ACUTE NEURONOPATHIC TYPE
230900
OMIM = Online Medalian Inheritance of Men
77260
1q22
  • enzyme replacement therapy
1:600 (>350 patients)
autosomal recessive
type I is mainly found in Ashkenazic Jews
3 types:
- chronic/adult (I) MIM 230800
- acute/infantile(II) MIM 230900
- juvenile (III) MIM 231000
- cardiovascular (IIIC) MIM 231005
symptoms
anemia
apnea
cerebral atrophy
chorea or athetosis
dysphagia
early death
failure to thrive
feeding difficulties, poor feeding
hepatomegaly (large liver)
hydrops fetalis
hyperreflexia
hypertonia, spasticity
ichthyosis
infections (severe or recurrent)
mental retardation
neurological deterioration
onset, childhood
onset, infancy
psychomotor retardation
seizures
splenomegaly (large spleen)
strabismus
swallowing difficulties
thrombopenia, thrombocytopenia
laboratory finding
Glucocerebrosidase 100.00decreased activityfibroblasts
Glucocerebrosidase 100.00decreased activityleucocytes
DNA
Glucosylceramidase (beta-Glucosidase) decreased activityleucocytes
Literature
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Gregg ARet al.Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: a case supporting multiple aetiologiesJ Inherit Metab Dis2143821998
Blau Net al.Physicians Guide to the Laboratory Diagnosis of Metabolic DiseasesSpringer000
Blau Net al.Physicians Guide to the Laboratory Diagnosis of Metabolic DiseasesSpringer000
Perry TLHansen SCystinylglycine in plasma: diagnostic relevance for pyroglutamic acidemia, homocystinuria, and phenylketonuriaClin Chim Acta2507-121981
Engelke UFHWevers RAHandbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopySPS000