PMID: 38945Sep 1, 1979

Biochemical discrimination of Hurler and Scheie syndromes

Clinical Science
J J Hopwood, V J Muller

Abstract

1. Homogenates of cultured skin fibroblasts derived from patients with alpha-L-iduronidase-deficiency disorders (Hurler and Scheie syndromes) were capable of hydrolysing iduronosyl anhydro-[1-3H]mannitol 6-sulphate although at considerably reduced rates compared with normal controls. 2. The Vmax. values of alpha-L-iduronidase from patients with Hurler or Scheie syndromes and from normal controls were 11, 12 and 833 pmol min-1 mg-1 of protein respectively; the corresponding apparent Km values were 656, 50 and 53 mumol/l respectively. The alpha-L-iduronidases from normal and Scheie fibroblast homogenates were shown to exhibit pH optima at 3.6 and 4.1 and were competitively inhibited by both chloride and sulphate ions: Hurler alpha-L-iduronidase activity exhibited the pH optimum at 3.8 and was also inhibited by chloride and to a lesser extent by sulphate ions. 3. The thermal stability of Hurler, Scheie and normal alpha-L-iduronidase activities at 55 degrees C gave half-lives of approximately 1.0, 2.5 and 1.0 h respectively. 4. These biochemical findings clearly demonstrate enzyme differences for these two clinically distinct phenotypes and provide biochemical evidence that the Hurler and Scheie syndromes result from different alle...Continue Reading

References

Oct 1, 1985·European Journal of Biochemistry·P R ClementsJ J Hopwood
Jan 11, 2012·Rheumatology·Joseph Muenzer
Aug 17, 1981·Klinische Wochenschrift·H KresseE Paschke
Mar 1, 1985·American Journal of Medical Genetics·M RoubicekJ Spranger
May 27, 2011·Assay and Drug Development Technologies·Kenneth J ValenzanoElfrida R Benjamin
Jan 1, 1990·Journal of Inherited Metabolic Disease·D A BrooksJ J Hopwood
Jan 1, 1993·Journal of Inherited Metabolic Disease·D A Brooks
Jan 1, 1986·Journal of Inherited Metabolic Disease·R W WattsJ H Adams
May 31, 2018·Diagnostic Pathology·Latifa ChkiouaSandrine Laradi

Related Concepts

Chloride Ion Level
Sulfates, Inorganic
L-Iduronidase
(L)-Mannitol
SERPINC1
Iduronate
Lactones
Mucopolysaccharidoses
Exo-beta-D-Glucuronidase
Fibroblasts

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