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Biomedical subjects

K Harzer

Publications and source records attributed to K Harzer.

At least 109 records · Page 6Linked to original sources
PubMed1980

Morquio syndrome (mucopolysaccharidosis IV B) associated with beta-galactosidase deficiency. Report of two cases.

Two male patients, aged 6 and 25, both with normal intelligence and absence of neurological abnormalities, exhibited dysostosis multiplex, dwarfism, odontoid anomalies, cloudy corneas, exessive excretion of keratan sulfate, and abnormal urinary oligosaccharides. Leukocytes and fibroblasts of both patients were deficient in acid beta-galactosidase (beta-gal) and normal in N-acetylgalactosamine-6-sulfate sulfatase, the deficient enzyme in classical Morquio syndrome. The beta-gal deficiency was not due to an endogenous inhibitor, and the parents exhibited intermediate activities. Deficient beta-gal activity was observed toward p-nitrophenyl-beta-galactoside, 4-methylumbelliferyl-beta-galactoside (4 MU-beta-gal), lactose, GM1 ganglioside, keratan sulfate, and asialofetuin (ASF). Under standard assay conditions, the residual activity was similar for all substrates tested. Toward p-nitrophenyl-beta-glactoside, the mutant enzyme behaved as a Km variant.

Adult↗
PubMed1979

Oculo-neural involvement in an enzymatically proven case of Niemann-Pick disease type B.

Niemann-Pick disease type B was diagnosed clinically and enzymatically in a 4 years old girl presenting with hepatosplenomegaly, diffuse interstitial infiltrations of both lungs on chest roentgenograms, and foam cells in the bone marrow aspirate. Intelligence and neurological examinations were normal. Spingomyelinase activity was almost totally deficient in leukocytes and cultured skin fibroblasts. Unexpectedly, fundoscopy revealed oculo-neural involvement with a reddish-brown spot of the macula comparable to but differing in some respects from the classic cherry-red spot found in neurolipidoses. By definition patients with type B Niemann-Pick disease should have no cerebral or oculo-neural involvement. Two comparable cases have been described in the literature. The prognosis of this special type is not yet known. For classification--and especially for genetic counselling--it seems important to include the possibility of oculo-neural involvement in the diagnosis of Niemann-Pick disease type B.

Child, Preschool↗
PubMed1978

[Detection of sulfamethoxazol and N4-acetylsulfamethoxazol in biological fluids by resversed-phase high-pressure liquid chromatography (author's tarnsl)].

Sulfonamide drugs can be detected by reversed-phase hihg-pressure liquid chromatography. The possibilities of this method in the direct qualitative and quantitative analysis in blood or in urine without enrichment and derivatization are illustrated by the analysis of sulfamethoxazol and its metabolite N4-acetylsulfamethoxazol.

Acetylation↗
PubMed1978

[Niemann-Pick disease type B: An enzymatically confirmed case with unexpected retinal involvement (author's transl)].

In a 6-year-old girl with normal to outstanding intelligence Niemann-Pick disease was diagnosed by the demonstration of an about 90% deficient sphingomyelinase activity. Abnormalities of the eye fundi are described which are comparable to but quantitatively deviate from the classic cherry-red spot as known from neurolipidoses. The brownish-red foveola was surrounded by a relatively thin opaque ring around which punctate white deposits (lipids?) could be detected. The absence of any other neurologic symptom was in contrast iwth an extreme hepatosplenomegaly, foam cells in the bone marrow, lung infiltration, underweight, and undergrowth. Therefore, the case was classed with the type B of Niemann-Pick disease, although the common definition of this type excludes cerebral as well as oculoneural involvement. In the literature only one comparable case could be found which, however, had not been enzymatically confirmed. In the future the definition of type B of Niemann-Pick disease should include the possibility of oculoneural involvement.

Child↗
PubMed1978

The two human lactosylceramidases and their respective enzyme activity deficiency diseases: inhibition studies using p-nitrophenyl-beta-D-galactoside.

Total lactosyl ceramide beta-galactosidase (LC) activity from normal and pathologic human leukocytes and tissues was subdivided into LC I (EC 3.2.1.46) and LC II (EC 3.2.1.23) activity by means of specific inhibition of LC II with 5 mM p-nitrophenyl-beta-D-galactoside (Ki = 1.5 mM). In globoid-cell leudodystrophy, inhibition of total LC was nearly complete (only LC II is active), whereas in GM1-gangliosidosis Type 1, very little inhibition was found (only LC I is actict). Total LC activity was not significantly low in either of the diseases, which have different genetic origins. The ratio of LC I to LC II activity may display remarkable genetic variation in normal probands.

Child↗
PubMed1978

An unusual case of phospholipidosis.

We present the results of a structural, histochemical and lipid-chromatographic study of tissues obtained at postmortem from an unusual case of phospholipidosis. A previous biopsy of the appendix and liver (Elleder et al., 1975a) had revealed a predominance of phosphoglyceride storage, principally of lysobisphosphatidic acid (LBPA) postmortem material showed that this lipid was stored exclusively in central neurons. In the spleen and the lymph node, however, sphingomyelin (SP) was shown, histochemically and chromatographically, to be the main lipid stored. Total sphingomyelinase (SPase) activity in the appendix was reduced to about 50% of normal. Neuroaxonal dystrophy (NAD) and a conspicuous discrepancy between the degree of distension of some neurons and their lipid content deserve special mention. The case is contrasted with classical sphingomyelinosis; the complexity of the Niemann-Pick group of diseases is discussed as an indication of the difficulties of classification of any atypical case.

Appendix↗
PubMed1977

Prenatal diagnosis of globoid cell leukodystrophy (Krabbe's diseases). Third documented case.

A case of globoid cell leukodystrophy (Krabbe's disease) was diagnosed prenatally by demonstrating a profound deficiency of cerebroside beta-galactosidase in cultured amniotic cells. The diagnosis was confirmed in the fetus aborted in the 19th week. In the cell-free amniotic fluid, normal enzyme activity was found. This finding, which had been demonstrated in a previous case, is discussed.

Amniocentesis↗
PubMed1977

[Analysis of benzodiazepines and their hydrolysis products, benzophenones, by reversed-phase high-performance liquid chromatography and its application to biological material (author's transl)].

Conditions for the routine separation of some benzodiazepines and their hydrolysis products, benzophenones, by reversed-phase high-performance liquid chromatography have been developed. They were applied to the qualitative and quantitative determination of benzodiazepines and benzophenones in biological material, e.g., blood and urine.

Benzodiazepines↗
PubMed1977

Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy family.

Very low levels of arylsulfatase A (ASA) have been found in the leukocytes of healthy members of a metachromatic leukodystrophy (MLD) family. The cerebroside sulfate sulfatase (CSS) activities in the same individuals are about 10% of the control level. Arguments favoring a dominant mutation different from that of classical MLD are presented. This report reinforces the relationship between the two enzymatic activities.

Age Factors↗
PubMed1976

[Prenatal diagnosis of globoid-cell leukodystrophy (Krabbe's disease) (author's transl)].

Amniocentesis in the 17th week of pregnancy in a 23-year-old woman who had previously lost a child with enzymatically proven Krabbe's disease revealed normal activity in cell-free amniotic fluid. But in two amniotic cell cultures a 25% defect of cerebroside-beta-galactosidase was found. The prenatal diagnosis of Krabbe's disease was subsequently confirmed after abortion of the fetus by enzymatic and morphological examination (globoid cells in the spinal-cord sections).

Abortion, Induced↗
PubMed1975

Sulfatide excreting heterozygous carrier of juvenile metachromatic leukodystrophy or asymptomatic patient of adult metachromatic leukodystrophy.

In a family with juvenile metachromatic leukodystrophy (sulfatide lipidosis) 2 patients showed residual arysulfatase A activities of 5--6%. The patients' healthy father was characterized biochemically by a 39% normal activity of leukocyte plus plasma arylsulfatase A. The father was further characterized by a high sulfatide excretion (0.2--0.5 mg/I urine) and, paradoxically, by a normal sulfatide degrading enzyme activity in vitro. This special carrier is suspected to be heterozygous for a) arylsulfatase A deficiency and b) arylsulfatase A (sulfatidase) lability. This presumed additional genetic defect could be the cause of the sulfatide excretion which, in turn, would be a sign of the preclinical stage of an exceptional form of adult metachromatic leukodystrophy. The normal sulfatidase activity seems to be due to an in vitro effect.

Adult↗
PubMed1975

[Detection and determination of parathion and p-nitrophenol in biological material by reverse-phase-high-power-liquid chromatography (author's transl)].

In 2 persons (female and male) who committed suicide reverse-phase-high-power-liquid chromatography (HPLC) was used to detect, in the first case, Parathion in the stomach and blood as well as p-Nitrophenol in the kidneys, and in the second case, p-Nitrophenol in the urine. The Parathion in the stomach was analyzed in quantity, directly and also after hydrolysis to p-Nitrophenol. The results were checked with gas-chromatographic and spectralphotometric methods.

Chromatography, Gas↗
PubMed1975

[Prenatal diagnosis of a case of metachromatic leucodystrophy (author's transl)].

Metachromatic leucodystrophy was diagnosed from cell-free amniotic fluid (marked deficiency of arylsulphatase A) in the 20th week of pregnancy of a woman whose two previous children also had the disease. The pregnancy was immediately terminated. Subsequent amniotic cell culture also revealed a very low arylsulphatase concentration corresponding to the values found in amniotic fluid. An about four-fold increase of metachromatic material was found in the formalin-fixed brain of the aborted fetus.

Abortion, Therapeutic↗