GeneReviews updates clinical overview of acid sphingomyelinase deficiency
GeneReviews published an updated clinical summary of acid sphingomyelinase deficiency, a lysosomal storage disorder once classified as Niemann-Pick disease types A and B. The condition presents along a clinical spectrum. Severe infantile neurovisceral disease can appear by age three months with detectable hepatosplenomegaly. Most untreated children with this form die before age three. Later-onset chronic visceral forms allow survival to adulthood. Enzyme replacement therapy now has FDA approval for non-central nervous system manifestations. The authors note that natural history may shift as more people receive long-term treatment.
Clinicians and families managing lysosomal storage disorders have access to an updated reference on diagnosis and treatment options.
Written by the Genomes desk from the primary source cited and linked above and checked against it. Research use only; not medical advice. Corrections: [email protected].