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Biomedical subjects

I Lombeck

Publications and source records attributed to I Lombeck.

At least 55 records · Page 3Linked to original sources
PubMed1982

Maple syrup urine disease--therapeutic use of insulin in catabolic states.

High and neurotoxic blood levels of leucine and its ketoanalogue develop in catabolic patients with maple syrup urine disease. The use of relatively high doses of insulin and additional glucose had a more pronounced effect on lowering leucine (and alpha-ketoisocaproate) blood levels than dietary elimination of leucine alone. This is demonstrated in 2 neonates after blood exchange transfusion and in one 4-months old patient suffering from febrile diarrhea.

Glucose↗
PubMed1980

Selenium requirements in patients with inborn errors of amino acid metabolism and selenium deficiency.

The diets of 5 patients with phenylketonuria of maple-syrup-urine disease were supplemented with yeast which was rich in selenium. For 120 days the patients received 45 micrograms Se/day to increase the Se content of their diets to 10--12 ng Se/Kjoule. Before supplementation the selenium content of serum (5--15 ng/ml) and whole blood (10--27 ng/ml), and the activity of the erythrocyte glutathione peroxidase (0.19--2.69 U37/g Hb), amounted to only 10--20% of normal. The serum selenium content reached normal values within 4 weeks of supplementation, followed by normalisation of the selenium content of whole blood within 4--8 weeks. Restoration of the activity of erythrocyte glutathione peroxidase took 9 to 15 weeks--the red cell life span. There was a significant positive correlation between the selenium content of the erythrocytes and the activity of erythrocyte glutathione peroxidase.

Child↗
PubMed1979

[Primary hypomagnesemia. Clinical, diagnostic and therapeutic studies in three children (author's transl)].

Three children with primary hypomagnesemia are described. First symptoms of the disease were observed, when the children were 35, 19, and 20 days old, resp. The hypomagnesemia was accompanied by a severe hypocalcemia. Therapeutic trials with high doses of calcium given intravenously and vitamin D were without effect on the symptoms. The whole body retention and intestinal resorption of orally administered 28-Mg was greatly reduced in all three patients compared to healthy adults. Symptoms of tetany and seizures ceased immediately after intravenous application of magnesium. An oral Mg substitution with 42--85 mmol per day was necessary to maintain subnormal to normal serum magnesium levels. The patients are now 5, 4 3/12 and 1 5/12 years old, resp. Psychomotor development in all three children is normal. Height and weight are in the lower normal range around the 3rd percentile, while the oral Mg substitution sometimes caused frequent fluid stools. By family studies from these patients and from the literature an autosomal-recessive inheritance for primary hypomagnesemia is proposed.

Female↗
PubMed1978

Selenium content of human milk, cow's mild and cow's milk infant formulas.

The selenium content of human milk, cow's milk and cow's milk infant formula were estimated by instrumental neutron activation analysis. The highest values were found in 3 samples of human colostrum (524--865 x 10(-9) g/g dry weight). There was a significant decrease with increasing time post partum. Mature human milk exhibited a selenium content of 230 +/- 79 x 10(-9) g/g dry weight. The selenium content of 45 samples of cow's milk from the north-western area of Germany was 200 +/- 39 x 10(-9) g/g dry weight. While there was no significant difference between the values of mature human milk and of cow's milk, cow's milk infant formula exhibited significantly (P less than 0.01) lower values than human milk. The average selenium content of 107 samples of 10 different commercially available fluid and powdered cow's milk infant formulas (range: 18--171 x 10(-9) g/g dry weight) amounted to about only one third of that in mature human milk.

Animals↗
PubMed1978

The selenium state of children. II. Selenium content of serum, whole blood, hair and the activity of erythrocyte glutathione peroxidase in dietetically treated patients with phenylketonuria and maple-syrup-urine disease.

The selenium content of serum, whole blood and hair was measured by neutron activation analysis in dietetically treated patients with phenylketonuria (PKU) and maple-syrup-urine disease (MSUD). Follow-up studies showed a decrease of the serum selenium content and the glutathione peroxidase activity of erythrocytes--a selenoenzyme--from normal values at the beginning of the diet to 20% (selenium) and 50% (gluthione peroxidase) of normal within 10--12 weeks of dietary treatment. In 36 patients the serum selenium content was lower at 6.7--28 X 10(-9) g/ml, independent of the age of the patients (0.5 to 10 years). The selenium content of whole blood was reduced: median = 98 X 10(-9) g/g dry weight; range 75 to 165 X 10(-9) g/g dry weitht (healthy children: median = 381 X 10(-9) g/g dry weight; range 245 to 588 X 10(-9) g/g dry weight). The selenium content of hair was markedly lower in the patients (median = 62 X 10(-9) g/g; range 13--140 X 10(-9) g/g) than in healthy children (median = 429; range 213 to 720 X 10(-9) g/g). The mean glutathione peroxidase activity of erythrocytes was reduced to 4.6 +/- 0.64 U37/g Hb, comparison to normal values (mean = 8.8 +/- 0.88 U37/g Hb).

Child↗
PubMed1978

Combined deficiency of xanthine oxidase and sulphite oxidase: a defect of molybdenum metabolism or transport?

A child is described who presented in the neonatal period with feeding difficulties, severe neurological abnormalities, lens dislocation of the eyes and dysmorphic symptoms of the head. Routine laboratory investigations revealed a decreased serum urate and a positive sulphite reaction of the urine. Subsequent chromatographic examinations showed xanthinuria and increased excretion of S-sulphocysteine and taurine to be present. In addition, high thiosulphate and low sulphate excretions in the urine were observed. Xanthine oxidase deficiency was demonstrated in a jejunal biopsy specimen, whereas the excretion of sulphur containing substances was considered to be characteristic of sulphite oxidase deficiency. This new combination of defects may be the result of malfunctioning of both enzymes, possibly caused by alterations in the essential molybdenum containing active centre of the enzymes, which they share in common.

Abnormalities, Multiple↗
PubMed1977

Serum zinc concentration during childhood.

Serum zinc concentrations in subjects of different ages were estimated by neutron activation analysis to obtain reliable reference values for the diagnosis of primary or secondary zinc deficiency during childhood. In these healthy individuals a small age-dependent variation of the mean values was found. Serum zinc concentrations were lower in cord blood (mean value: 880 X 10(-9) g/ml) and in infant;s (mean value: 820 X 10(-9) g/ml) than in adults (mean value 1178 X 10(-9) g/ml). In comparison to these values, the serum zinc concentration in a patient with secondary zinc deficiency and 4 patients with acrodermatitis enteropathica was reduced to about 25% of normal.

Acrodermatitis↗
PubMed1977

The selenium state of healthy children. I. Serum selenium concentration at different ages; activity of glutathione peroxidase of erythrocytes at different ages; selenium content of food of infants.

The selenium concentration of serum is age-dependent. The median value at birth (chi=50 X 10(-9)g/ml) amounts to half of the median value of adults (chi=102 X 10(-9)g/ml). After a decrease in early infancy to chi=34 X 10(-9)g/ml it steadily increases to chi=58 X 10(-9)g/ml in the second half of the first year, to chi=82 X 10(-9)g/ml in 1--5 year old children, and to chi=92 X 10(-9)g/ml in school children. The activities of the selenium containing enzyme glutathione peroxidase of erythrocytes are also reduced in early infancy (chi=7.2 +/- 0.36 U37/g Hb), whereas the enzyme activities of cord blood erythrocytes (chi=8.72 +/- 0.76 U37/g Hb) are in the same range as those of older children or adults. The selenium content of some commercially available milk formulas for infants are lower than those of human and cow's milk.

Adolescent↗
PubMed1977

A metabolic disorder similar to Zellweger syndrome with hepatic acatalasia and absence of peroxisomes, altered content and redox state of cytochromes, and infantile cirrhosis with hemosiderosis.

A patient with a cerebro-hepato-renal syndrome was investigated. The visceral manifestations were those of the Zellweger syndrome (ZS); however, the child exhibited muscular hypertonia and survived into the 2nd year of life. Ultramicroscopically, hepatocytes were lacking peroxisomes, but, contrary to findings in one patient with ZS [2], contained smooth endoplasmic reticulum. No catalase was found by histochemistry or spectroscopy. Mitochondria showed normal succinate and glutamate respiration, and normal coupling of respiration to the phosphorylation potential. The cytochrome (cyt) content was diminished to one-third with an abnormally inversed redox pattern of the respiratory chain in the controlled state, cyt b being 5%, cyt c 23% reduced. The oxygen affinity of cyt a3 was normal. These findings exclude a defect in the nonheme iron protein region of the respiratory chain as described in ZS [2], but point to a functional abnormality of cyt b in out patient.

Catalase↗
PubMed1977

Primary and secondary disturbances in trace element metabolism connected with genetic metabolic disorders.

Several primarily inherited disturbances of minerals and trace elements have been discovered within the last 20 years. Secondary disturbances of selenium and zinc induced by dietetic treatment of inborn errors of metabolism and by parenteral nutrition also came to our knowledge recently. Two main types of chronic or primary hypomagnesaemia are known which are caused either by impaired intestinal absorption or by false magnesium handling by the kidneys. In acrodermatitis enteropathica, an autosomal-recessive inherited disease leading to characteristic skin lesions, alopecia and dystrophy, low zinc concentrations of serum, urine and hair are measured. The intestinal absorption of zinc is reduced. In copper metabolism two inherited diseases are known with low serum and usually caerulosplasmin concentrations. In Menkes' steely hair syndrome (trichlpoliodystrophy) an intestinal net malabsorption of copper exists, whereas in Wilson's disease the copper contents of several organs are increased.

Adult↗
PubMed1976

Two cases of phosphoenolpyruvate carboxykinase deficiency.

Two children are described who suffered from hypoglycemia and liver impairment. Assays of gluconeogenic enzymes in liver samples taken immediately after death demonstrated a deficiency of phosphoenolpyruvate carboxykinase, a key enzyme of gluconeogenesis. Post mortem examination demonstrated massive fat deposition in liver and kidney and to a lesser extent in other tissues. The fatty changes in liver and kidney could be explained by the absence of phosphoenolpyruvate carboxykinase, which would cause an alteration in the mitochondrial-cytosolic processes related to gluconeogenesis.

Fatty Acids↗
PubMed1975

Serum-selenium concentrations in patients with maple-syrup-urine disease and phenylketonuria under dieto-therapy.

Serum-selenium concentrations were measured in 2 dietetically treated patients with maple-syrup-urine disease, in 11 dietetically treated patients with phenylketonuria, in 37 healthy children of different ages and in 183 healthy adults. The estimations were performed by instrumental neutron activation analysis. The values of the dietetically treated patients were much lower than those of healthy children of the same age group. Within 8 to 12 weeks the serum-selenium concentrations decreased from normal values before therapy to very low values under dieto-therapy. During infancy the serum-selenium concentrations of healthy individuals show an increase to the adult range of values.

Child↗
PubMed1975

[Acrodermatitis enteropathica--a disturbance of zinc metabolism with zinc malabsorption (author's transl)].

The intestinal resorption of zinc using 65ZnCl2 was estimated in 3 patients with acrodermatitis enteropathica, 2 healthy controls, and 3 heterozygotes. After oral application of 65Zn the whole body activity was measured by a whole body counter for 34 days. The 65Zn resorption of the patients amounted to 16, 42 and 30% of the applied dose, whereas the resorption values of the heterozygotes and the controls were in the range of 58 and 77%. The elimination of 65Zn from the body amounted to about 0.7% of the applied dose with no difference between controls and patients with acrodermatitis enteropathica. Before therapy the serum-zinc levels of patients were markedly decreased. After oral application of high doses of zinc aspartate (2 times 400 mg/day) all clinical symptoms disappeared within a week. The results point at a causal connection between zinc and the pathogenesis of acrodermatitis enteropathica. Ultrastructural alterations of the Paneth cells of the intestines are also shown in this disease [12] as have also been seen in Paneth cells of zinc deficient rats [Beitr. Path. 145, 336 (1972)].

Acrodermatitis↗
PubMed1975

Alpha-ketoadipic aciduria, a new inborn error of lysine metabolism; biochemical studies.

Investigation of a psychomotorically retarded girl showed excretion of abnormal amounts of alpha-ketoadipic acid, alpha-hydroxyadipic acid, alpha-aminoadipic acid, 1,2-butenedicarboxylic acid and elevation of plasma alpha-aminoadipic acid levels. The identity of these metabolities was established by various methods. The excretion of alpha-aminoadipic acid correlated to the lysine intake. Degradation studies with cultured fibroblasts indicate a defect in the oxidative decarboxylation of alpha-ketoadipic acid (see Clin. Chim. Acta, 58 (1975) 271.

Adipates↗
PubMed1975

Primary hypomagnesemia. I. Absorption Studies.

The clinical course of 2 patients with primary hypomagnesemia is reported. In one male patient, 5 months old, measurements of magnesium retention, intestinal absorption, fecal excretion and renal clearance were performed. The retention (2.8%) and absorption (7.8%) of 28-Mg were markedly reduced in comparsion to controls (average retention 25% and average absorption 28%). The retention values of the parents and other realtives did not differ from those of healthy adults. The examined patient was sucessfully treated with trimagnesium dicitrate containing 1.75 g magnesium per day.

Calcium↗