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Biomedical subjects

W Sperl

Publications and source records attributed to W Sperl.

At least 91 records · Page 5Linked to original sources
PubMed1990

Nephrosis in two siblings with infantile sialic acid storage disease.

The diagnosis of infantile sialic acid storage disease (ISSD) was established in two siblings on the basis of typical clinical signs and the biochemical findings of hyperexcretion and intracellular storage of free sialic acid. A severe, steroid resistant nephrosis occurred in both siblings. The activities of lysosomal enzymes, including sialidase, were normal. A combined detection method for sialic acids with Limax flavus agglutinin labelling and phosphotungstic acid staining showed severely alterated sialic acid components in epithelial kidney cells and indicate a causal relationship between the nephrosis and the underlying biochemical defect. Further observations of ISSD patients with renal involvement will prove if a separate nephropathic phenotype exists.

Carbohydrate Metabolism, Inborn Errors↗
PubMed1990

Deficiency of the alpha and beta subunits of pyruvate dehydrogenase in a patient with lactic acidosis and unexpected sudden death.

An infant with moderate muscular hypotonia and congenital lactic acidosis died suddenly at the age of 3 months. Autopsy revealed no abnormalities responsible for this unexpected death. Measurement of mitochondrial enzymes involved in energy production indicated a severely decreased total pyruvate dehydrogenase complex (PDHC) activity in muscle tissue (0.23 nmoles x min-1 x mg protein-1, control range 2.8-8.7) and moderately decreased PDHC activity in fibroblasts (0.27 nmoles x min-1 x mg protein-1, control range 0.37-2.32). The activity of the first component E1 (pyruvate dehydrogenase) in muscle tissue was 10 times lower than that of controls (0.008 nmoles x min-1 x mg protein-1, control range 0.10-0.25). The activities of dihydrolipoyl dehydrogenase (E3) and various other mitochondrial enzymes were normal. Immunochemical analysis in skeletal muscle tissue and fibroblasts demonstrated a decrease in the amount of the alpha and beta subunits of E1. The features of this patient are compared with those of other patients reported in the literature with immunochemically confirmed combined E1 alpha and beta deficiency.

Acidosis, Lactic↗
PubMed1990

Isolated and combined deficiencies of NADH dehydrogenase (complex I) in muscle tissue of children with mitochondrial myopathies.

We describe eight children with complex I deficiency, four of them with an isolated, the other four with an additional deficiency of complex IV. Clinical, chemical and morphological findings were compared from patients with isolated and combined deficiency. In both groups, the age of onset of symptoms was between the 1st day and the 4th month of life. Clinical and biochemical heterogeneity were observed. We found no correlation between residual activity of complex I in muscle, blood lactate level, and severity of clinical symptoms. Newborns presenting with severe lactic acidosis and children with later onset myopathy were seen in both groups. The group with combined complex I deficiency showed a more severe clinical course. By light microscopy ragged red fibres were only found in two patients with combined deficiency. However, by electron microscopy structural alterations of the mitochondria were observed in six out of seven muscle specimens.

Biopsy↗
PubMed1990

[Biochemical diagnosis of rare hereditary metabolic disorders. Experiences from a patient sample of the Innsbruck University Pediatric Clinic 1984-1987].

The diagnosis of inherited metabolic diseases requires an intensive cooperation between the clinician, the clinical chemist and the biochemist to select patients for an adequate screening program, to avoid unnecessary expensive investigations and to achieve a final molecular diagnosis. Often a cooperation with specialized laboratories even in different countries is necessary. 29 patients with an inherited metabolic disorder have been evaluated at the Children's Hospital, University of Innsbruck, between 1984 and 1987. Seven patients with a disturbance in carbohydrate metabolism incl. pyruvate oxidation, nine with a defect in amino or organic acid metabolism, eleven patients with a lysosomal storage disorder, one patient with steroid-sulfatase deficiency and one with M. Wilson have been found. In nine of these 29 patients an organic aciduria was detected, four of them had lactic aciduria due to a mitochondrial defect of the oxidative energy metabolism. 21 children corresponded to a well-known classic phenotype, eight represented very rare or unique, not previously described clinical forms of a disease. In one third of the cases a cooperation with a foreign institute was necessary. The presentation of the most important biochemical investigations in children with inherited metabolic defects should give a survey of the diagnosis of such patients at a pediatric centre and should furthermore stimulate the development of a common diagnostic procedure program and the cooperation and coordination of the laboratories involved in the diagnosis of inherited metabolic disorders in Austria.

Amino Acid Metabolism, Inborn Errors↗
PubMed1990

Effect of the calcium entry blocker nimodipine on the metabolism of nucleic acids in rat brain ischemia.

The effect of nimodipine, a 1,4 dihydro-piridine calcium entry blocker (200 micrograms/kg), was investigated in rats after definitive ischemia or 2 min of global ischemia (neck tourniquet method). The brains were freeze-clamped at the desired time intervals and subjected to high pressure liquid chromatography analyses for nucleotides and enzymatic lactate estimation. Although in the definitive ischemia (removal of the brain) no difference was observed in the treated versus the untreated animals, there was a statistically significant difference in both groups after global ischemia followed by reperfusion. Thirty minutes after reflow the brains of the treated animals contained 1,690 +/- 62 nmol ATP/g as compared to 765 +/- 259 nmol ATP/g in the untreated animals (p less than 0.05). The normal controls amounted to 1,932 +/- 77 nmol ATP/g. Also the adenylate energy charge returned to normal in the treated animals (treated animals and controls 0.69 and 0.72, respectively). From these preliminary data we conclude that nimodipine is able to restore mitochondrial function after ischemia and to maintain a high level of energy-rich phosphates. Thus, calcium entry blockers may be effective in preserving and protecting cerebral tissue from irreversible injury after ischemia.

Adenine Nucleotides↗
PubMed1989

[Maple syrup urine disease and cystathioninemia].

We report of our experience a case of a patient with the classic type of Maple Syrup Urine Disease (MSUD) and the rare combination with a secondary Cystathioninemia. The screening of newborns in terms of looking for MSUD has been terminated in 1979 because the number of cases was too small. An 8 days old boy was admitted to our hospital in al lifethreatening state with unspecific neurological symptoms. We were able to diagnose the MSUD in 36 hours. Although we succeeded in decreasing the plasma leucin level by an exchange transfusion and a continuous arteriovenous hemofiltration over 3 days, the leucin level again increased to neurotoxic levels. Finally we managed the leveling by applying a high caloric parenteral and enteral intake. Also a substitution of valin and isoleucin was necessary. The goal of the long-term treatment with a life-long diet with fixed quantities of BCCAs is to adjusted the plasma leucin level to 100-700 mumol/l, the valin and isoleucin level to 200-300 mumol/l. In summary we want to point out, that the diagnosis for the MSUD should be done early enough, to start the successfull therapy, as described above, and to improve the prognosis.

Amino Acid Metabolism, Inborn Errors↗
PubMed1988

Mitochondrial myopathy with lactic acidaemia, Fanconi-De Toni-Debré syndrome and a disturbed succinate: cytochrome c oxidoreductase activity.

A patient with severe muscular hypotonia, failure to thrive, a metabolic acidosis and a renal tubular dysfunction is presented. The disease followed a fatal course. Blood lactate and pyruvate levels as well as lactate/pyruvate ratios were strongly elevated. There were a massive excretion of lactate in urine, a generalized hyperaminoaciduria, a proteinuria and a mellituria. The carnitine concentration was diminished in blood and muscle tissue. Biochemical investigations of skeletal muscle and liver tissue revealed a defect in the respiratory chain at the level of succinate: cytochrome c oxidoreductase. The defect could not be demonstrated in cultured fibroblasts.

Acidosis, Lactic↗
PubMed1988

Insulin regulatory effects on purine- and pyrimidine metabolism in alloxan diabetic rat liver.

Aim of this study was to elucidate insulin regulatory effects on purine and pyrimidine metabolism. Livers of alloxan diabetic and insulin treated rats were freeze clamped and nucleotide pools measured using HPLC techniques. Activities of key enzymes of de novo and salvage pathways were analyzed with radioassays. In diabetic liver nucleotide triphosphate pools were reduced between 46 and 75% of controls, nucleotide monophosphate concentrations increased. Activities of de novo biosynthetic enzymes amidophosphoribosyltransferase, FGAM synthase, IMP dehydrogenase, GMP synthase, carbamoylphosphate synthase II were curtailed by 16-61%, those of salvage enzymes hypoxanthine-guanine-phosphoribosyltransferase, adenine-phosphoribosyltransferase, thymidine kinase also decreased to 31-58%. Insulin treatment for 2 and 7 days normalized nucleotide pools, activities of key enzymes of de novo and salvage pathways were increased between 2.4 and 4.1 fold compared to diabetic untreated. Activation of nucleic acid metabolism by insulin can be explained by the requirement for high energy phosphates of certain anabolic key enzymes in carbohydrate and lipid metabolism. Impaired synthesis in insulin deficiency of end products of guanylate and pyrimidine pathway required as substrates for a variety of enzymes synthesising membrane structures throw new light on the pathogenesis of some late complications of diabetic disease.

Animals↗
PubMed1988

[Changes in electrolyte and acid-base equilibrium in children with acute urinary tract infections].

Between 1980 and 1986 313 patients with urinary tract infection have been investigated in a retrospective study for changes in their electrolyte and acid base metabolism. A correlation with malformations of the urinary tract has been performed. In 34% of our patients obstruction of the urinary system was demonstrated. 40% of all patients with urinary tract infection showed electrolyte disturbances in serum varying from severe to moderate. No difference in electrolyte and acid base disturbances were found between patients with and without obstructive uropathy. A remarkably diverse pattern of electrolyte changes was seen: hyponatremia singly or in various combination was observed most frequently (81%) but even hypernatremia was found. In some patients only an acid base disturbance without changes in electrolytes was seen. The pattern of hyponatremia with hyperkalemia--reported in the literature with obstructive uropathy--was observed in 6.8% of our patient population with electrolyte disturbances. This was however not restricted to patients with malformation of the urinary tract.

Acid-Base Equilibrium↗
PubMed1987

[Severe course of osteopathy in Lowe's oculocerebrorenal syndrome].

A boy with oculo-cerebro-renal syndrome died at the age of 5 months after a rapid course of this disease with severe osteopathy resistant to therapy. Radiological findings and parameters of mineralisation metabolism will be shown. There are signs indicating both, a disturbed osteoid production due to the underlying disease and a diminished bone mineralisation because of the renal involvement.

Bone and Bones↗
PubMed1986

[Aortic coarctation and osteogenesis imperfecta].

This is the report of a 4 year old patient with osteogenesis imperfecta tarda and aortic coarctation. The resection of the aortic coarctation was performed when the patient was 5 years old. Postoperative recovery and formation of scar tissue presented no problems. Increased operation risk due to osteogenesis imperfecta (White et al., 1983) and possible abnormal formation of scar tissue due to this collagen disorder necessitated detailed preoperative tests of collagen metabolism. We shall discuss the histological and biochemical results of these tests and evaluate the effect of therapy with catechin.

Aorta, Thoracic↗
PubMed1986

[High-dose heparin in a patient with purpura fulminans following varicella].

We report on a 3 1/2 year old girl with purpura fulminans after varicella who made a complete recovery on treatment with an appropriate high-dose heparin regimen and other supporting measures. Several attempts to reduce the heparin dosage from the initial high level (85 IU/kg/hour) to the usual level (25 IU/kg/hour) were followed each time by an immediate deterioration in the clinical condition.

Blood Coagulation Tests↗
PubMed1985

[Porencephaly as a cause of ophthalmologic symptoms].

Two cases of hypoplasia of the optic nerve associated with porencephaly and one case of porencephaly without ophthalmologic signs are described. The clinicopathological correlation of the double-ring sign is presented and the possible mechanism of optic nerve hypoplasia being a secondary degeneration is discussed.

Blindness↗
PubMed1985

[Lactic acid acidosis with mitochondrial myopathy due to a pyruvate dehydrogenase deficiency].

We report on a patient, now 17 year old, in whom lactic acidosis was detected at the age of 7 while attempting to diagnose the causes of increasing weakness. The laboratory examinations revealed elevated pyruvate, alanine and oxaloacetate levels in serum and also a lowered citrate level. This led us to suspect a disturbance of the pyruvate dehydrogenase complex. Reduced pyruvate dehydrogenase activation in leucocytes and muscle tissue was indeed found. This article reports on the 10 year history of this case and attempts to establish a connection between the various symptoms observed and the underlying metabolic defect.

Acidosis↗
PubMed1985

[Glycine encephalopathy: a non-ketotic disorder of glycine catabolism].

We report on a newborn with peracute glycine encephalopathy. The child exhibited poor feeding, incipient respiratory failure and increasing muscular hypotonia from the first few days of life onwards and was admitted to hospital at six weeks due to regression of the symptoms. Following respiratory arrest the child had to be placed on controlled ventilation and died at the age of four months in spite of therapeutic measures. Previous papers on this rare disease have described elevated CSF glycine levels, EEG patterns, CT scan and acoustic and visual evoked potentials. We have supplemented these for the first time by somatosensory evoked potentials. The following is an account of the clinical course and the therapy given.

Brain↗