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LYSOSOMAL ACID LIPASE DEFICIENCY; LAL-D

LYSOSOMAL ACID LIPASE DEFICIENCY; LAL-D
WOLMAN DISEASE; LAL-D; LIPA DEFICIENCY; CESD
278000
OMIM = Online Mendelian Inheritance of Men
75233
Lysosomal acid lipase/cholesteryl ester hydrolase
3.1.1.13
10q23.31

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
E75.5
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
Laboratory findings    Cholesterol n/i (serum)
    Cholesteryl esters inc (tissue)
    Foam cells, bone marrow abn (bone marrow)
    HDL-Cholesterol dec (serum)
    Hemoglobine dec (blood)
    Lymphocytes, vacuoles abn (blood)
    Lysosomal acid lipase dec (leucocytes)
    Lysosomal acid lipase dec (fibroblasts)
    Transaminases (ASAT/ALAT) inc (serum)
    Triglycerides inc (serum)
Symptoms   abdominal distension
   abdominal fullness
   adrenal calcification
   atherosclerosis
   diarrhea
   failure to thrive
   hepatomegaly (large liver)
   liver failure
   mental retardation
   psychomotor retardation
   splenomegaly (large spleen)
   steatorrhea
   vomiting
    ascites
    early death
    growth retardation, poor growth
    malabsorption
    onset, infancy
    pain, abdominal