LYSOSOMAL ACID LIPASE DEFICIENCY (LAL D)

Lysosomal Acid Lipase Deficiency (LAL D):
LAL D is an inherited (genetic) disorder which means that it is passed down within a family.  It is autosomal recessive which means that if a person has LAL D they have 2 genetic “mutations” on a gene (in the case of LAL D it is the “LIPA” gene); 1 mutation is passed down from the person’s father and 1 mutation is passed down from the person’s mother.  These “mutations” do not allow the body to produce an enzyme called lysosomal acid lipase (LAL).  LAL is an enzyme that is responsible for breaking down fats in a part of the cell called the lysosome.  Since the LAL enzyme is missing, or deficient, the fats build up in many cells which primarily lead to liver disease, high bad cholesterol and low good cholesterol. LAL D sometimes leads to death before a baby’s first birthday because they are unable to absorb nutrients.  Most of the people that have LAL D are children and adults. 

  • Before it was known that LAL D in infants, children and adults is the same disease, the disease was referred to as “Wolman disease” to describe the very severe disease in infants and “Cholesteryl Ester Storage Disease” to describe the disease in children and adults.

Lysosomal Acid Lipase Deficiency (LAL D):
Lysosomal Acid Lipase Deficiency (LAL D) in children and adults is usually well hidden because there are only signs of the disease and not many, if any, symptoms.  Signs of the disease in pediatric and adult people typically include high bad cholesterol, low good cholesterol, and elevated liver enzymes and these abnormalities are not easily explainable (i.e. the high cholesterol is not due to poor diet or the elevated liver enzymes is not due to alcohol use).  Symptoms of the disease may be more difficult to recognize.  Some people with LAL D have a larger than normal liver and spleen but this can be missed by the doctor. 

  • Bad cholesterol may be referred to as LDL-cholesterol in test reports
    • People that have LAL D may have LDL-cholesterol higher than 160 mg/dL
    • Good cholesterol may be referred to as HDL-cholesterol in test reports
      • People that have LAL D may have HDL-cholesterol lower than 50 mg/dL
      • Liver enzymes may be referred to as liver transaminases or “ALT” and “AST”
        • Higher than normal liver transaminases may indicate liver injury
        • A large liver can be described as hepatomegaly
        • A large spleen can be described as splenomegaly

LAL D affects people differently.  In many children and adults with LAL D, the result of the deficiency is severe liver disease (liver fibrosis and cirrhosis) and a build-up of fat in artery walls which can lead to stroke and other cardiovascular related disease at varying ages. 

 

LAL D in infants is a very severe form of the disorder and the babies die usually within the first 6 months of life.  It is very rare in comparison with LAL D in children and adults.  About 1 – 2 babies are born per 1 million births with this severe form of the disease.  It is believed that the primary reason that LAL D affects these infants differently is that these babies have no LAL enzyme.  LAL D in children and adults is likely due to the ability of these people to produce some (even a very little amount) of LAL enzyme.

  • The infants that die generally have 0 LAL enzyme
  • Children and adults generally have 1% to 10% of LAL enzyme

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