| 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 | |
| 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 |