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Biomedical subjects

J Gehler

Publications and source records attributed to J Gehler.

36 records · Page 2Linked to original sources
PubMed1978

Increased urinary excretion of keratan sulfate in fucosidosis.

In two children exhibiting the clinical symptoms of fucosidosis, the diagnosis was biochemically ascertained by the demonstration of a profound altpha-L-fucosidase deficiency in cultured skin fibroblasts. The non-dialysed urines of these fucosidosis patients were separated into two fractions by chromatography on Biogel P-2. The first fraction containing the glycosaminoglycans was further fractionated on Dowex 1 X 2 by stepwise elution with increasing NaCl concentrations. Keratan sulfate-chondroitin sulfates attached to the same peptide core were assayed and characterised mainly in the fractions eluted with 1.25, 1.5, 2.0 and 3.0 mol/1 NaCl. Whereas the excretion of normal children of the same age was found to be 0.77 mumol glucosamine equivalents per day in the 2 mol/1 and 3 mol/1 NaCl fraction, the two patients excreted 6.7 (M. C.) and 3.5 (M. S.) mumol glucosamine equivalents per day, respectively. Since keratan sulfate contains alpha-fucose at the non-reducing terminal, this increase in excretion of long chain keratan sulfate in fucosidosis could result from impaired degradation of keratan sulfate, due to the alpha-fucosidase deficiency.

Acid Phosphatase↗
PubMed1977

Mucolipidosis I--a sialidosis.

Mucolipidosis I is characterized by Hurler-like features and skeletal dysplasia with a cherry-red macular spot and signs of neurodegeneration involving neuronal cells and myelin. Excessive amounts of sialic acid-containing compounds were found in cultured fibroblasts, leukocytes, and urine of a patient with a clinical phenotype of mucolipidosis I. In cultured fibroblasts, profoundly diminished activity of an alpha-N-acetylneuraminidase (sialidase) was found. Mucolipidosis I thus appears to be a distinct disorder of complex carbohydrate catabolism caused by the genetic deficiency of a neuraminidase.

Cells, Cultured↗
PubMed1976

The mucopolysaccharidoses: inborn errors of glycosaminoglycan catabolism.

The mucopolysaccharidoses are genetic disorders of glycosaminoglycan metabolism. Patients with these diseases accumulate within the lysosomes of most tissues excessive amounts of dermatan and/or heparan sulfates, or of keratan sulfate. The clinical consequences of such glycosaminoglycan storage range from skeletal abnormalities to cardiovascular problems, and to motor and mental retardation. In all mucopolysaccharidoses, except Morquio disease, an excessive accumulation of sulfate-labeled glycosaminoglycans has been demonstrated in fibroblasts cultured from the patient's skin. It was subsequently shown that this was due to the deficiency of specific proteins which were named "corrective factors", because their addition to the culture medium effected a normalization of the impaired glycosaminoglycan catabolism in the respective mucopolysaccharidosis fibroblasts. The investigation of the function of the corrective factors, and other studies, led to the identification of the enzymatic defect in each of the mucopolysaccharidoses. Seven lysosomal enzyme deficiencies are now recognized among this group of disorders. A classification of the diseases, according to the mutant gene products, reveals that there is considerable phenotypic variation not only between diseases, but also within several disease types. With the availability of the appropriate enzyme assays, the previous difficulties in diagnosing these disorders have now been overcome. Methods are also available for the prenatal diagnosis, and the detection of heterozygous individuals, in most of the mucopolysaccharidoses. Although correction of the metabolic defect through enzyme replacement has been achieved in tissue culture, many problems remain to be solved before such therapy may become applicable in the patients themselves.

Glycosaminoglycans↗
PubMed1976

Prenatal diagnosis of mucolipidosis II (I-cell disease).

A pregnancy at risk for mucolipidosis II (I-cell disease) was monitored in which an affected fetus was predicted on the basis of the analyses of lysosomal hydrolases in amniotic fluid and cultured amniotic fluid cells, and by the demonstration of an excessive accumulation of [35S] sulfate-labeled glycosaminoglycans in cultured amniotic cells. This diagnosis was confirmed by performing enzyme assays and [35S] sulfate incorporation studies on material derived from the aborted fetus.

Amniotic Fluid↗
PubMed1976

The radiographic features of mannosidosis.

Skeletal changes seen in 12 patients with mannosidosis included thickened calvaria, ovoid configuration, flattening and hook-shaped deformity of the vertebral bodies, hypoplasia of the inferior portions of the ilia, and mild expansion of the short tubular bones of the hands. The pattern of skeletal changes is that of mild to moderate dysostosis multiplex with considerable intrafamilial variation. The skeletal abnormalities may decrease with age. Correlation of the skeletal abnormalities with clinical and biochemical findings is necessary for a specific diagnosis.

Adolescent↗
PubMedDate not supplied

Cranial computed tomography in disorders of complex carbohydrate metabolism and related storage diseases.

Computed tomography (CT) was performed on 34 children with different disorders of complex carbohydrate metabolism and related storage diseases to obtain data on the degree of cerebral involvement. The main findings on CT were cerebral atrophy and hypodensity of the white matter. There was a great variability in these CT findings, even in siblings. Among the patients there were several in whom CT was normal, so a negative study does not exclude one of these disorders. These findings show that CT features such as cerebral atrophy or hypodensity are helpful in the evaluation of these disorders, though a diagnosis cannot be made on the basis of CT alone.

Brain Diseases, Metabolic↗