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Summary
NIEMANN-PICK DISEASE TYPE B
607616
OMIM = Online Medalian Inheritance of Men
77293
11p15.4
  • no specific treatment
rare (> 100 cases, all forms, Ashkenazic jewish 1:120)
autosomal recessive
different phenotypes
symptoms
cherry-red spot on retinal macula
dyspnea
early death
hepatomegaly (large liver)
infections (severe or recurrent)
interstitial pneumonitis
onset, childhood
onset, infancy
short stature
splenomegaly (large spleen)
thrombopenia, thrombocytopenia
laboratory finding
Acid sphingomyelinase5.0010.00 % of normalfibroblasts
Sphingomyelin increasedtissue
Foam cells, bone marrow bone marrow
Thrombocytes, Platelets decreasedblood
Literature
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Mescka CP,et al.Investigation of inflammatory profile in MSUD patients: benefit of L-carnitine supplementationMetab Brain Dis3051167-11742015
Wessel AE,et al.Management of a Woman With Maple Syrup Urine Disease During Pregnancy, Delivery, and LactationJPEN J Parenter Enteral Nutr397875-8792015
Carrozzo R,et al.Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2Mitochondrion18049-572014