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Summary
LYSOSOMAL ACID LIPASE DEFICIENCY LAL-D
WOLMAN DISEASE LAL-D LIPA DEFICIENCY CESD
278000
OMIM = Online Medalian Inheritance of Men
75233
10q23.31

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • no specific treatment
rare (1-9/100.000)
autosomal recessive
mutation in the LIPA gene
Wolman Disease with hypolipoproteinemia and acanthocytosis (MIM 278100) enzyme deficiency results in massive accumulation of cholesteryl esters and triglycerides in most tissues, fatal course in the 1st year of life
symptoms
abdominal fullness
adrenal calcification
anemia
ascites
diarrhea
early death
failure to thrive
growth retardation
hepatomegaly (large liver)
liver failure
malabsorption
mental retardation
onset, infancy
pain, abdominal
splenomegaly (large spleen)
steatorrhea
vomiting
laboratory finding
Cholesteryl esters increasedvarious tissues
Triglycerides increasedserumchild
Hemoglobine 9.0014.00decreasedblood
Lysosomal acid lipase0.0010.00 % of normalfibroblasts, leucocy
Foam cells, bone marrow abnormalbone marrow
Lymphocytes, vacuoles abnormalblood
Transaminases 10.0030.00increasedserum
Cholesterol increasedserum
HDL cholesterol decreasedserum
Literature
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Levy HLTaylor RG, McInnes RRDisorders of histidine metabolismThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101107-11231995
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Harding BNet al.Progressive neuronal degeneration of childhood with liver disease (Alpers disease) presenting in young adultsJ Neurol Neurosurg Psychiatry583320-3251995
Aslanidis Cet al.Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activityGenomics33085-931996
Moeller Pet al.Progressive neuronal degeneration of childhood with liver disease (Morbus Alpers)Monatschr Kinderheilk1420863-8671994
Wanders RJAet al.Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cellsJ Inher Met Dis Suppl.18090-991995
Carrillo-Carrasco N,Chandler RJ, Venditti CP.Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and managementJ Inherit Metab Dis35191-1022012
Erbe RWInborn errors of folate metabolismin Blakley RL, Whitehead VM (eds): Folates and Pterins New York, John Wiley 304131986