mucopolysaccharidosis-7; Sly syndrome; MPS7

Pathology: - associated with non-immune hydrops fetalis Genetics: - autosomal recessive - associated with defects in GUSB Clinical manifestations: - mild mental retardation - somewhat coarse facies - gingivitis - organomegaly - sometimes corneal clouding Laboratory: - excessive dermatan sulfate & heparan sulfate in the urine - diagnosis confirmed by measuring the GUSB in leukocytes

Related

beta glucuronidase (GUSB, beta-G1, MPS7) dermatan sulfate

Properties

ACCUMULATION: dermatan sulfate DEFICIENCY: beta-glucuronidase

References

Tietz Textbook of Clinical Chemistry, 2nd ed. Burtis CA & Ashwood ER (eds), WB Saunders Co, Philadelphia PA, 1993, pg 2152