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| Disease found: | Acid Sphingomyelinase Deficiency |
| Current as of: | October 8, 2024 |
| Disease Overview: | Genetic disease characterized by inability to metabolize fatty substance sphinomyelin due to mutations in the SMPD1 gene (type A and B) [more info] |
| Signs and Symptoms: | Spectrum of symptomology including hepatosplenomegaly (enlarged liver and/or spleen), yellowing of the skin and eyes (jaundice), feeding difficulties, respiratory infections, cherry red spots in the eyes and neurologic deterioration [more info] |
| Diagnosis: | Blood leukocyte or skin fibroblast ASM enzyme workup; genetic testing possible [more info] |
| Treatment: | Symptom specific; Olipudase approved to treat pediatric and adult symptoms that are not CNS in nature [more info] |
| Clinical Management: | Symptom specific; Olipudase approved to treat pediatric and adult symptoms that are not CNS in nature [more info] |
| Referral: | ~100 specialists worldwide [more info]. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | 13 clinical trials in progress and recruiting [more info] |