Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.

ABSTRACT: Disclaimer:This diagnostic guideline is intended as an educational resource and represents the opinions of the authors, and is not representative of recommendations or policy of the American College of Medical Genetics and Genomics (ACMG). The information should be considered a consensus based on expert opinion, as more comprehensive levels of evidence were not available in the literature in all cases.

Background

Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, and often fatal lysosomal storage disease. The underlying metabolic defect is deficiency of the enzyme acid sphingomyelinase that results in progressive accumulation of sphingomyelin in target tissues. ASMD manifests as a spectrum of severity ranging from rapidly progressive severe neurovisceral disease that is

SUBMITTER: McGovern MM 

PROVIDER: S-EPMC5589980 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature