Lysosomal acid lipase deficiency - Wikipedia.
Lysosomal storage diseases (LSDs) are a group of more than 50 genetic disorders. Clinical symptoms are caused by the deficiency of specific enzyme (enzymes) function and resultant substrate accumulation in the lysosomes, which leads to impaired cellular function and progressive tissue and organ dysfunction.Lysosomal acid lipase deficiencies occur when a person has defects (mutations) in both copies of the LIPA gene. Each parent of a person with LAL deficiency carries one copy of the defective LIPA gene. With every pregnancy, parents with a son or daughter affected by LAL deficiency have a 1 in 4 (25%) chance of having another affected child. A person born with defects in both LIPA genes is not.BJH Chemistry will forward to the performing laboratory. Do not centrifuge. Send whole blood at ambient temperature Monday through Thursday only. Include patient clinical history with specimen. Send to Jefferson Medical College, Lysosomal Diseases Testing Laboratory, Philadelphia, PA. Must be received by testing laboratory within 24 hours of draw.
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Effect of collection, transport, processing and storage of blood specimens on the activity of lysosomal enzymes in plasma and leukocytes. M. Burin 1, C. Dutra-Filho 2, J. Brum 3, T. Mauricio 4, M. Amorim 5 and R. Giugliani 1.
