Hypersulfaturia (HYSULF) is an autosomal recessive condition characterized by increased urinary sulfate excretion due to defective renal sulfate reabsorption. The single reported patient with this condition presented with adult-onset perichondritis of the costovertebral joints (Pfau et al., 2023). [from OMIM]
- MedGen UID:
- 1841147
- •Concept ID:
- C5830511
- •
- Disease or Syndrome