Urinary Excretion Of Mucopolysaccharides Research Articles

著明な後わん変形を呈したムコ多糖症に対する観血的治療例の経験

Mucopolysaccharidosis is often associated with spinal deformities such as kyphosis, atlanto-axial instability. The kyphosis responds well to treatment with Milwaukee brace in infant, but may require surgical treatment if it is severe and progressive.We have experienced a case of mucopolysaccharidosis with severe kyphotic deformity who underwent surgical treatment successfully. The patient was a seventeen years old male complaining of kyphosis and gait disturbance. Physical examination revealed short statue, flexion contracture of both elbow, hip and knee joints, mental retardation, heat murmur and hepatomegaly, but no gargoyle face, corneal clouding. No neurological abnormality was seen except for hyperreflexia of the bilateral lower limbs. Roentgenograms of the spine showed os odontoideum and thoraco-lumbar kyphosis measured 65 degrees from the eleventh thoracic to the third lumbar vertebrae. In biochemical findings, the excessive urinary excretion of mucopolysaccharides was seen, but the inactivity of any enzyme was not significant.The patient, treated by two-stage operation with anterior and posterior procedures, had initial improvement in the kyphosis from 65 to 8 degrees.

Studies on skin and urinary mucopolysaccharides in malnourished/vitamin A deficient children

In protein-calorie malnourished children, with or without associated vitamin A deficiency, skin content of acid mucopolysaccharides (MPS) and urinary excretion of MPS and amino sugars were studied. MPS content of skin in both malnourished groups was increased 3-6-fold. This increase was essentially in the non-sulphated component. In normal skin, non-sulphate MPS accounted for 68% of the MPS content, whereas in the malnourished group with vitamin A deficiency it constituted 93%. Urinary excretion of MPS (24h) was significantly reduced by 50-70% in malnourished groups. This returned to normal levels in the malnourished/vitamin A deficient group when vitamin A injections were administered. Excretion of amino sugars (24 h) in the malnourished groups was also decreased by 50-70%. In normal children 55% of the total amino sugars was dialysable whereas in the malnourished it was increased to 60%. The excretion of protein-bound and dialysable amino sugars was increased to normal level only in the group given supplements of vitamin A in addition of protein and calories.

Urinary mucopolysaccharide excretion in women with pelvic inflammatory disease.

Urinary mucopolysaccharide excretion in women with pelvic inflammatory disease.

'Salla Disease'

Severe mental retardation, coarse facial features, clumsiness, and speech failure were common findings in three brothers and one female third-cousin of a family from northern Finland. All the patients had vacuolated lymphocytes in peripheral blood smears, and electron microscopy of fresh skin biopsy specimens showed abundant cytoplasmic inclusions in various types of cells of the skin. Eight lysosomal hydrolases were assayed in peripheral blood lymphocytes and cultured skin fibroblasts, but no enzyme deficiency was detected. Urinary excretion of mucopolysaccharides, amino acids, glycoasparagines, and oligosaccharides was normal. Clinical findings, course of the disease, and the presence of cytoplasmic inclusions, indicating lysosomal storage phenomenon, suggest that the patients suffer from a genetic lysosomal storage disorder not described earlier. The eponym "Salla disease" was introduced, referring to the geographically restricted area where the family resides.

The influence of infection in obstetric and gynecologic patients upon increased urinary mucopolysaccharide excretion

Abstract The mucopolysaccharide (MPS)/creatinine ratio was determined from ninety-seven 24 hour urinary collections from 37 women with a clinical diagnosis of pelvic infection. Of 80 determinations obtained in gynecologic patients during the course of treatment, 66 exceeded the limits of normal. The elevated MPS ratio was not limited to time periods in which patients were febrile. An elevated MPS ratio occurred less frequently in postpartum patients receiving antibiotic therapy than in gynecologic patients. The significance of these findings in the evaluation of obstetric-gynecologic patients with infection is discussed.

Mucopolysaccharide degradation and excretion after hyaluronidase injection in patients with hunter's and hurler's syndromes

Abstract The effect of hyaluronidase injection into 6 patients with Hunter's and Hurler's syndromes was studied. An increased urinary excretion of mucopolysaccharides was observed in 4 out of 6 patients. Two of the patients showed a decreased excretion of mucopolysaccharides. There was a correlation between the “degree of deterioration” and the amount of mucopolysaccharides excreted during the injection of Hyase. Heparitin sulfates and chondroitin sulfate B increased in concentration in the urine of Hunter's patients during the injection, whereas in Hurler's patients only chondroitin sulfate B increased its concentration. “Softening of the joints” together with the disappearance of the hyperactivity common to these patients were the major clinical changes observed during the injection. Based on these results, the participation of the hyaluronidase in these syndromes is discussed.

Infections in Obstetrics and Gynecology: New Developments in Treatment

The well documented clinical success in the control of life-threatening infections of women has contributed to the emergence of new bacterial pathogens. Infections caused by Bacteroides fragilis constitute the most important problem of infection control facing the practicing obstetrician and gynecologist today. New developments in diagnosis and treatment include urinary mucopolysaccharide excretion and nitroblue tetrazolium tests, earlier operative intervention, and more frequent use of anticoagulants.

PLASMA INFUSION THERAPY FOR HURLER'S SYNDROME

Ever since the first report from Houston of the "plasma infusion" approach to modification of the Hurler's syndrome picture there has been a wide popular feeling that the beginnings of a "treatment" were at hand for this group of inborn error diseases. Intriguing data on alteration of the pattern of urinary mucopolysaccharide excretion, and, to some extent, of the children's clinical manifestations, opened a real hope that a substantial mechanism existed for rendering more normal the skewed metabolism of these patients. In addition, the authors commented that "human plasma infusions . . . seemed to fit the recommendations" given in a previous PEDIATRICS Commentary for theoretically useful therapeutic trials of new materials in patients with inborn error syndromes.

Effects of the menstrual cycle, pregnancy, hysterectomy, and other operative procedures upon urinary mucopolysaccharide excretion: A preliminary report

Abstract Mucopolysaccharide (MPS) determinations were performed on 174 24 hr. urine specimens from 57 patients. Urinary MPS were increased on the fifteenth and twentieth days of the menstrual cycle. Normal pregnancy was associated with a rise in urinary MPS excretion that persisted in the early postpartum period. At least a portion of the elevated MPS of the postpartum period seems to be contributed by the involuting uterus, for MPS excretion was lower in patients undergoing cesarean hysterectomy than in those women who had cesarean section. Urinary MPS were increased following hysterectomy and other operative procedures. Generally, the more major procedures were accompanied with the highest levels of MPS excretion. Significant pelvic infection postoperatively was associated with rises in MPS excretion. The significance of these findings is discussed.

Morquio's disease and mucopolysaccharide excretion

A study of Morquio's disease, a heritable disorder of connective tissue, showed good correlation between clinical and radiologic data and urinary excretion of mucopolysaccharides. Patients who had the radiologic criteria of this disorder excreted 2 to 3 times the normal amount of keratosulfate. The rate of excretion appears to decrease with age in patients, as well as in normal children. Although a number of skeleton abnormalities can be confused with those of Morquio's disease on the basis of clinical data alone, they can be differentiated by careful radiologic studies and by the rate of keratosulfate excretion.

Familial progressive myoclonic epilepsy (Unverricht-Lundborg syndrome in five Valaisian families). A contribution to the research of its metabolic origin through the study of urinary excretion of mucopolysaccharides

SUMMARYAfter a historical review of the problem of progressive myoclonic epilepsy, the author makes a detailed clinical and genetic description of 5 families from the Valais canton, affected with the disease. The metabolic disturbances observed in these cases (urinary elimination of mucopolysaccharides) are given particular attention. The author further discusses the various classifications of myoclonic epilepsy which were established on the basis of clinical symptomatology, electroencephalographic tracings, pathological anatomy and biochemical findings.

Problems in the analysis of urinary mucopolysaccharide excretion

Abstract In a study of polysaccharide excretion in patients with mucopoly-saccharidoses large differences in yield as well as pattern, depending on the assay procedure used, were observed. When urines with high creatinine values were not dialyzed prior to polysaccharide precipitation with CTAB, large amounts of heparitin sulfate remained in solution and were therefore lost to analysis. On the other hand, when urines were routinely dialyzed considerable losses of chondroitin sulfate B appeared to occur. Both factors can lead to serious errors in mucopolysaccharide analysis and significantly affect any attempt to correlate disease classification with urinary excretion pattern. An improved method has been proposed and investigators are advised to check for possible losses in the urine of individual patients rather than to rely on a general method.

Congenital Herniation of the Large Bowel Into the Pericardial Cavity: Survival into Adulthood Despite a Generalized Connective Tissue Disorder

An adult with an unusual combination of mesodermal defects is presented. A striking finding was the herniation of a major portion of the large bowel into the pericardial cavity through a foramen of Morgagni defect. In addition, the patient exhibited a variety of muscular skeletal anomalies, Monckeberg sclerosis of the muscular arteries, and complete heart block. Urinary mucopolysaccharide excretion and a chromosome count were normal. The most likely explanation of the observed findings is a biochemical defect in connective tissue.

THE EFFECT OF RETINOL (VITAMIN-A ALCOHOL) ON URINARY EXCRETION OF MUCOPOLYSACCHARIDES IN THE HURLER SYNDROME

<h2>Abstract</h2> Retinol (vitamin-A alcohol) increased the urinary excretion of mucopolysaccharides in six patients with the Hurler syndrome—an inherited disorder associated with increased body stores of mucopolysaccharides. To determine whether this increased urinary excretion is accompanied by clinical improvement will require further investigation.

Modification of urinary mucopolysaccharide excretion in patients with Hurler's syndrome.

Several variants of Hurler's syndrome can be distinguished both genetically and biochemically. All these patients excrete excess acid mucopolysaccharides in their urine, but the ratio of chondroitin sulfate B to heparitin sulfate varies in different families. When the patients are in a basic condition and are maintained on a constant diet, the amount of 24 hour urinary acid mucopolysaccharides and the ratio of chondroitin sulfate B to heparitin sulfate show little daily fluctuation. Seven children with Hurler's syndrome were studied in their basic state and consecutively while receiving corticosteroids, thyroid, human growth hormone, hydroxychloroquine, and salicylates. It was demonstrated that administration of hydroxychloroquine increases urinary excretion of acid mucopolysaccharides, while prednisone tends to decrease the excretion of urinary acid mucopolysaccharides. Thyroid and corticosteroids produced marked changes in the ratio of chondroitin sulfate B to heparitin sulfate, especially in patients who excreted predominantly heparitin sulfate in their basic state. Salicylates and human growth hormone did not induce significant changes in the pattern of urinary excretion of acid mucopolysaccharides.

Urinary Excretion of Acid Mucopolysaccharides

The excretion of acid mucopolysaccharides in the urine of seventy-seven patients was determined by the techniques described by Dorfman and by Berry and Spinanger. Eight of the patients had clinical and roentgenographic findings typical of either achondroplasia, Morquio's disease, Hurler's disease, or epiphysealis dysplasia multiplex, and eight others had non-specific abnormalities of enchondralbone formation. Forty-eight other patients in this study also had Legg-Perthes disease, slipped capital femoral epiphysis, or idiopathic scoliosis. There were thirteen normal controls. Only in the two patients with Hurler's syndrome was the urinary excretion of mucopolysaccharides elevated as determined by the methods used.

Urinary excretion of mucopolysaccharides in normal individuals and in the marfan syndrome

Abstract A study of the urinary excretion of mucopolysaccharides indicates a normal excretion of approx. 5–10 mg/24 h of a mixture of compounds. Although the major compounds normally excreted are the chondroitin sulfates (A, B, C), evidence is presented for the excretion of chondroitin, heparitin sulfate, and keratosulfate. The excretion appears to be somewhat greater in males and is increased around puberty. In the Marfan syndrome there is a two- to four-fold greater excretion but this is qualitatively similar to that for normal individuals. The mucopolysaccharide excreted in urine represents a small fraction relative to the amount metabolized in the body's connective tissue.

Urinary mucopolysaccharide excretion in the sex-linked form of the Hurler syndrome.

SummaryThe urinary mucopolysaccharide excretion of a family with the sex-linked form of gargoylism has been quantitatively studied, using several methods. The results indicate that neither carriers nor unaffected siblings excrete significantly higher than normal quantities of total acid mucopolysaccharides.