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Glucopsychosine (also called glucosylsphingosine) is a biomarker for selective deficiency of the enzyme, beta-glucocerebrosidase (beta-glucosidase), the cause of the autosomal recessive lysosomal storage disorder Gaucher disease. There are 3 types of Gaucher disease, all of which include hepatosplenomegaly and hematological abnormalities. Type I, the most common, also includes coagulation abnormalities, bone and lung involvement, whereas type II is rapidly progressive and includes CNS involvement. Type III is more slowly progressive. Laboratory confirmation can include the demonstration of reduced beta-glucosidase activity, molecular analysis of the GBA gene, and elevated blood glucopsychosine. Measurement of glucopsychosine may also help in assessing response to enzyme replacement therapy PMID: 27441734. Source: Regenstrief LOINC

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Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) 葡萄糖鞘氨醇半乳糖苷
Synonyms: 葡萄糖神经酰胺;CAS 52050-17-6
it-IT Italian (Italy) Glucopsicosina
es-ES Spanish (Spain) Glucopsicosina
pl-PL Polish (Poland) Glukozylosfingozyna
Synonyms: Glukozylosfingozyna