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Summary
NIEMANN-PICK DISEASE TYPE A
257200
OMIM = Online Medalian Inheritance of Men
77292
11p15.4
  • no specific treatment
rare (> 100 cases, all forms, Ashkenazic jewish 1:120)
autosomal recessive
different phenotypes
symptoms
anemia
cherry-red spot on retinal macula
cirrhosis or fibrosis of liver
constipation
early death
failure to thrive
feeding difficulties, poor feeding
hepatomegaly (large liver)
hypotonia
infections (severe or recurrent)
interstitial pneumonitis
jaundice
mental retardation
muscle weakness
neurological deterioration
onset, infancy
osteoporosis
progressive neurologic defect
psychomotor retardation
ptosis (drooping eyelid)
short stature
splenomegaly (large spleen)
vomiting
xanthoma
laboratory finding
Acid sphingomyelinase0.005.00 % of normalfibroblasts
Sphingomyelin increasedtissue
Foam cells, bone marrow bone marrow
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