Properties of ?-l-iduronidase in cultured skin fibroblasts from ?-l-iduronidase-deficient patients

S, Fujibayashi; Minami, Ryoji; Ishikawa, Yoshimoto; Wagatsuma, K.; Tsugawa, Satoshi

doi:10.1007/bf00286515

Cited by 15 publications

(7 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Mucopolysaccharidosis type I (MPSI; MIM# 252800) is an autosomal recessive lysosomal storage disorder caused by a deficiency in the enzyme α‐ l ‐iduronidase (IDUA) (1). Here, we present results of mutation analysis of the IDUA gene in 10 korean pedigrees with MPSI.…”

Section: Summary Of Idua Mutations In 10 Korean Mps Type I Patientsmentioning

confidence: 99%

Mutational analysis of the α‐l‐iduronidase gene in 10 unrelated Korean type I mucopolysaccharidosis patients: Identification of four novel mutations

Ij¹,

Sh²,

Jeon³

et al. 2004

Clinical Genetics

View full text Add to dashboard Cite

Section: Summary Of Idua Mutations In 10 Korean Mps Type I Patientsmentioning

confidence: 99%

Mutational analysis of the α‐l‐iduronidase gene in 10 unrelated Korean type I mucopolysaccharidosis patients: Identification of four novel mutations

Ij¹,

Sh²,

Jeon³

et al. 2004

Clinical Genetics

View full text Add to dashboard Cite

“…Biochemical differentiation between types 1H, 1H1S and IS has proved difficult (see Mueller et al, 1984, andRoubicek et al, 1985, for bibliography) although Fujibayashi et al (1984) (1987) have described a phenotypically normal obligate heterozygote for Hurler syndrome with very low levels of a-L-iduronidase activity with normal substrate affinity (Km) but reduced catalytic activity (V max); this may complicate prenatal diagnosis.…”

Section: Discussionmentioning

confidence: 99%

“…Biochemical differentiation between types 1H, 1H1S and IS has proved difficult (see Mueller et al, 1984, andRoubicek et al, 1985, for bibliography) although Fujibayashi et al (1984) were able to distinguish between Hurler, Scheie and Hurler-Scheie intermediate case fibroblasts. Differences may exist between in vitro and in vivo enzyme activities.…”

Section: Discussionmentioning

confidence: 99%

Hurler-Scheie Phenotype Associated with Consanguinity

Davies

Dutton

Farquharson

et al. 1989

Studies in Inherited Metabolic Disease

View full text Add to dashboard Cite

Both Hurler(lH) and Scheie(lS) diseases (McKusick 25280) are caused by a deficiency of a-L-iduronidase (EC 3.2.1.76). To explain their widely different phenotypes McKusick et al. (1972) suggested that the abnormal genes Hand S are allelic. A compound form was postulated (HIS) and at least 33 such cases have been reported (Roubicek et al., 1985). Amongst such HIS compound cases the frequency of parental consanguinity should be no higher than in the general population. However, five instances of parental consanguinity amongst HIS cases have been reported suggesting a third allelic mutant. We describe a further case with HIS phenotype whose parents were related. PATIENTA 15-year-old girl, whose parents were first cousins once removed, presented with symptoms of tiring easily, stiff joints, frequent colds, breathlessness on exertion, post-exertional muscle stiffness, difficulty in wearing teenage skirts and poor eyesight. Past medical history included operations for congenital dislocation of hip (age 2 years), umbilical hernia (age 6) and grommets in both ears (age 8). Investigations elsewhere for mild 'spasticity' in the legs (age 10) had shown a normal CT scan of head, normal myelogram and slightly raised CSF protein content (80mgdL-l). Menarche had occurred at the age of 11 years and her periods had been regular.On examination (Figure 1) she had hypertelorism, a short neck, pixielike facies with receding chin and short stature (144cm; -3 SD). Genital and axillary hair was sparse; breast development was normal. There was clinical evidence of aortic stenosis, hepatomegaly (down to level of anterior superior iliac spine), conductive deafness, lumbar lordosis, genu val gum and severe restriction of all movements of shoulders. Reflexes in the legs were brisk but there was no gross spasticity or muscle weakness and plantar reflexes were flexor. Sensation was intact. Blood pressure was 98178. Corrected visual acuity was 6112 (R) and 6/18 (L). Bilateral swelling of optic disc margins was present with a focal intra-retinal infiltrate present below the left disc. The cornea appeared clear.

show abstract

“…The assay mixture for arylsulfatase consisted of 0.05 ml of enzyme, 0.05 ml of 0.1 M sodium-acetate buffer and 0.05 ml of 8 mM 4MU substrate, and the assay mixture for a-D-neuraminidase, 0.04 ml of enzyme, 0.04 ml of 0.5 M sodium-acetate buffer and 0.04 ml of 2 mM 4MU substrate. a-L-Iduronidase was assayed in a mixture containing 0.02 ml of 0.1 M sodium-formate buffer containing 12 mM D-saccharic acid-1, 4-lactone (Fujibayashi et al 1984) and 0.02 ml of 2 mM 4MU substrate. Incubation was carried out at 37°C for 60 min, except a-L-neuramindase, which was assayed after 30 min at 37°C.…”

Section: Methodsmentioning

confidence: 99%

Comparative enzymology of eleven acid hydrolases in cultured amniotic fluid cells, skin fibroblasts and embryonic lung fibroblasts, and the respective changes with the increasing age of the cell cultures.

Minami

Wagatsuma

Ishikawa

et al. 1985

Tohoku J. Exp. Med.

View full text Add to dashboard Cite

Assay conditions were studied for eleven lysosomal enzymes (,l-D-galactosidase, a-D-mannosidase, Q-hexosaminidase, /l-D-glucuronidase, a-n-galactosidase, a-D-glucosidase, arylsulfatase, f3-D-glucosidase, a-L-fucosidase, a-D-neuraminidase and a-L-iduronidase) in cultured amniotic fluid cells (CAFC), cultured skin fibroblasts (CSF) and cultured embryonic lung fibroblasts (CELF), and the properties of the enzymes were compared among these cultured cells. In addition, changes in these enzymes from the three cell types were investigated between 4-6 earlier passages and 24-26 later passages. With the exception of a-D-glucosidase, a-D-neuraminidase and a-L-fucosidase, all enzymes assayed for the 4-6 earlier passages and the 24-26 later passages had the same Km values and the same pH optima, and were also unchanged with the increasing age of cell clutures, with regard to their points. The specific activities of R-D-glucuronidase, arylsulfatase, a-D-glucosidase and Q-D-glucosidase for the 4-6 earlier passages increased significantly with development, though no change was observed with development in the specific activities of other enzymes. Variations were observed between the levels of these enzymes in the three cell types with the increasing age of cell cultures, such as increases in some, decreases in others and no change in still others. lysosomal enzymes ; cultured amniotic fluid cells ; cultured skin fibroblasts ; cultured embryonic lung fibroblasts A number of inborn errors of metabolism due to deficiencies of specific lysosomal enzymes can now be diagnosed antenatally. However, less attentions have been paid to the variations in the activities of lysosomal enzymes of normal

show abstract

Properties of ?-l-iduronidase in cultured skin fibroblasts from ?-l-iduronidase-deficient patients

Cited by 15 publications

References 11 publications

Mutational analysis of the α‐l‐iduronidase gene in 10 unrelated Korean type I mucopolysaccharidosis patients: Identification of four novel mutations

Mutational analysis of the α‐l‐iduronidase gene in 10 unrelated Korean type I mucopolysaccharidosis patients: Identification of four novel mutations

Hurler-Scheie Phenotype Associated with Consanguinity

Comparative enzymology of eleven acid hydrolases in cultured amniotic fluid cells, skin fibroblasts and embryonic lung fibroblasts, and the respective changes with the increasing age of the cell cultures.

Contact Info

Product

Resources

About