Increased excretion of urinary glycosaminoglycans in a case of Rothmund Thomson syndrome.

Tokunaga, Masayuki; Wakamatsu, Eikichi; Yosizawa, Zensahu

doi:10.1620/tjem.126.1

Cited by 20 publications

(9 citation statements)

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“…(recessive type) (Igarashi et al 1978) and progeria (Hutchinson-Gilford syndrome) (Tokunaga et al 1978a) ; dermatan in epidermolysis bullosa dystrophica et albopapuloidea (Pasini) (Endo et al 1974) ; partially degraded heparan sulfate and chondroitin sulfate in Rothmund Thomson syndrome (Tokunaga et al 1978b). In addition, Murata et al (1970Murata et al ( , 1973 reported that increased excretion of chondroitin sulfate isomers and heparan sulfate in the urines of the patients with some systemic CTD and Weber Christian disease, respectively.…”

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confidence: 99%

A method of screening test for excretion pattern of urinary glycosaminoglycans and its application to normal human urine.

Nagatsuka

Sato

Ototani

et al. 1980

Tohoku J. Exp. Med.

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confidence: 99%

A method of screening test for excretion pattern of urinary glycosaminoglycans and its application to normal human urine.

Nagatsuka

Sato

Ototani

et al. 1980

Tohoku J. Exp. Med.

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“…Intellectual development is retarded in 30% of cases [24]. No specific biological disorder is noted, although some authors reported isolated abnormalities: a decreased vitamin A blood level, a peak in the alpha-2-globulin fraction, and increased excretion of urinary glycosaminoglycans, probably related to a connective tissue disorder [3,25,26].…”

Section: Discussionmentioning

confidence: 99%

Rothmund-Thomson syndrome and osteosarcoma

Cumin

Cohen

David

et al. 1996

Med. Pediatr. Oncol.

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The Rothmund‐Thomson syndrome (RTS), also called poikiloderma congenitale is a rare autosomal recessive disease first described in 1868. This syndrome includes most frequently seen skin lesions (atrophy, telangiectases, pigmentation), cataracts and bone defects (dysostosis, dysplasia). Some authors describe an association with malignancy. We report three cases of Rothmund‐Thomson syndrome associated with osteosarcoma. After cutaneous epithelioma, osteosarcoma is the most frequent malignancy. Thus, patients with RTS need a careful survey. The treatment did not differ from sporadic osteosarcoma. Chemosensitivity and toxicity are also not different. © 1996 Wiley‐Liss, Inc.

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“…Testicular hyaluronidase (Seikagaku-Kogyo, Tokyo) digestion was carried out by the method described by Fransson and Roden (16). Heparitinase digestion (a gift from Seikagaku-Kogyo, Tokyo) was performed as described by Tokunaga et al (26). Chondroitinase AC and ABC (Seikagaku-Kogyo, Tokyo) digestions were carried out by the method of Saito et al (23).…”

Section: Methodsmentioning

confidence: 99%

Acid Mucopolysaccharide (AMPS) Abnormality in Multiple Sulfatase Deficiency: Chemical Compositions of AMPS in Urine and Liver

et al. 1982

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Summarvtissues and cultured skin fibroblasts (I, 2. 10.20.21). This disorderExtensive chemical analyses of acid mucopolysaccharides (AMPS) were carried out in the urine and tissues (liver and brain) from a Japanese patient and two European patients with multiple sulfatase deficiency (MSD). The Japanese patient with MSD contained excessive quantities of heparan sulfate and moderately increased chondroitin sulfate A/C. Urinary excretion of AMPS in MSD heterozygotes was increased 2-fold compared to our controls. The urinary pattern of AMPS in the mother of the MSD patient showed an increase of 18% heparan sulfate and 36% dermatan sulfate whereas the urinary excretion pattern in the father was increased 21% for heparan sulfate as contrasted to controls (chondroitin sulfate A. 50-52%: chondroitin sulfate C. 38-46%; andheparan sulfate, 3-I&).Seventy-five % of the AMPS and the MSD liver was heparan sulfate rather than dermatan sulfate. The degree of accumulation of AMPS in the MSD liver was 30-50 times that of the control.Cerebral gray matter from the MSD patient contained 30-40 times that of control (relative increase of heparan and dermatan sulfate) whereas only a 5-fold increase was observed in white matter. It seems that a major site of accumulated AMPS appears to be in the gray matter.Carbohydrate analysis of the AMPS obtained from MSD urine and tissues was performed by: enzyme digestion with testicular hyaluronidase, heparitinase and chondroitinase ABC, cellulose acetate electrophoresis, Dowex-1 column chromatography and amino sugar analysis by amino acid analyzer. These findings indicate that the major accumulated AMPS in MSD urine and liver is heparan sulfate and thus, the predominant AMPS metabolic defect in MSD is heparan sulfate degradation. SpeculationThe accumulation of negatively charged AMPS, particularly the increased he~aran sulfate in the nervous svstem of oatients with MSD, leads io cellular dysfunction resulting in changes in the net charge of neuronal cells.

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Increased excretion of urinary glycosaminoglycans in a case of Rothmund Thomson syndrome.

Cited by 20 publications

References 6 publications

A method of screening test for excretion pattern of urinary glycosaminoglycans and its application to normal human urine.

A method of screening test for excretion pattern of urinary glycosaminoglycans and its application to normal human urine.

Rothmund-Thomson syndrome and osteosarcoma

Acid Mucopolysaccharide (AMPS) Abnormality in Multiple Sulfatase Deficiency: Chemical Compositions of AMPS in Urine and Liver

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