Niemann-Pick disease

Recommended panel testing at Breda Genetics for this condition: Niemann-Pick disease (NPC1, NPC2, SMPD1) Summary The eponym Niemann-Pick disease (NPD) encompasses two distinct metabolic defects. The first includes NPD types A and B and is due to deficiency of the acid sphingomyelinase (ASM) enzyme. The second defect, namely NPD type C, is mainly due to […]

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Lysosomal acid lipase deficiency (Wolman disease and CESD)

Recommended panel testing at Breda Genetics for this condition: Lysosomal acid lipase deficiency (Wolman/CESD) and its differential diagnosis (LIPA, SMPD1, GBA, LDLR, APOB, PCSK9, LDLRAP1). Summary Lysosomal acid lipase deficiency is caused by homozygous or compound heterozygous mutation in the LIPA gene. Lysosomal acid lipase deficiency is predominantly a pediatric disease, although milder forms of […]

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