Article
Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A.
The American journal of case reports - 5 Nov 2022
Kavčič Alja, Homan Matjaž, Živanović Milanka, Debeljak Maruša, Butenko Tita, Drole Torkar Ana, Žerjav Tanšek Mojca, Bertok Sara, Battelino Tadej, Groselj Urh
Abstract excerpt
BACKGROUND Niemann-Pick disease (NPD) type A is an autosomal recessive lipid storage disorder caused by acid sphingomyelinase deficiency due to a mutation in the SMPD1 gene. Type A is the most severe phenotype of NPD, with early onset in infancy and unfavorable outcome in early childhood. CASE REPORT An 11-month-old boy with hepatosplenomegaly, elevated liver transaminases, and faltering growth was admitted to...
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