SUMF1-sEDD
Previously: Multiple sulfatase deficiency
sEDD
Gene: SUMF1
AR
Onset:
Birth to infancy (median 3 months)
Pathway:
Lipid synthesis and transport
Category Paper:
sEDD Paper
Key Clinical Clues
STS-sEDD (X-linked)-like scale retention.
Additional Cutaneous Features
Generalized darker polygonal scaling (STS-sEDD-like).
Additional Extracutaneous Features
Mental retardation with psychomotor regression; skeletal anomalies; organomegaly; median age at death: 13 years.
References
Schlotawa L, Preiskorn J, Ahrens-Nicklas R et al. A systernatic review and meta-analysis of published cases reveals the natural disease history in multiple sulfatase deficiency. J Inherit Metab Dis 2020; 43:1288-97.
Summarised from published literature for general information. This is not medical advice, and entries are still being verified. Read the full disclaimer
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