Abstract
Lysosomal acid lipase deficiency (LALD) is a rare disease of lysosomal storage inherited in an autosomal recessive manner and caused by damaging mutations in the LIPA gene encoding the synthesis of the enzyme lysosomal acid lipase (LAL). Authors represent basic information about LALD, describe its typical clinical and laboratory manifestations, features of enzyme replacement therapy with Sebelipase alfa (sold under the brand name KANUMA®), which is a recombinant form of the enzyme LAL, outcomes and prognosis of the disease in children. Modern methods for the LALD detection and an algorithm for diagnosing the disease in patients with hypertransaminasemia are discussed as well. A clinical case report of LALD with proven effectiveness of treatment with Sebelipase alfa (KANUMA®) in a pediatric patient are given.
Published Version
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