[Prenatal diagnosis of glycogenosis type II (Pompe) and subsequent therapeutic abortion (author's transl)].
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Biomedical subjects
Publications and source records attributed to I Lombeck.
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A low Se intake in dietetically treated patients with phenylketonuria (PKU) or maple syrup urine disease (MSUD) leads to a marked reduction of the platelet glutathione peroxidase activity (GSHPx). The mean value amounted to 2.0 U/10(11) platelets with t-butyl hydroperoxidase (t-BOOH) (2.2 U/10(11) with H2O2) in patients and 5.8 U/10(11) with t-BOOH (5.4 U/10(11) with H2O2) in the control children. After Se supplementation with yeast rich in Se (dose: 135 micrograms Se/m2) the GSHPx activities rapidly increased. They reached a plateau after 2-3 weeks and remained there during the following 15-20 weeks of supplementation. After the cessation of supplementation there was a slow decrease, the values reached a low plateau after 24 weeks. In addition platelet glutathione S-transferase (GSHTf) was estimated with 1-chloro-2,4-dinitrobenzene. No significant difference between the values in healthy and dietetically treated patients in a low or normal Se state was observed. GSHTf did not exhibit peroxidase activity and did not show a compensatory increase when Se dependent GSHPx activity was low. The patients do not reveal clinical signs of disturbed platelet function. GSHPx may act in platelets via lipoxygenase on the prostaglandin pathway. The physiologic consequence of altered arachidonate metabolism, when GSHPx is deficient in platelets, remains to be elucidated.
In 78 healthy term babies from Düsseldorf and surroundings spontaneous urine samples were collected on day 108 to day 144 of life and analyzed for the content of iodine and creatinine. 26 babies were breast fed. 23 babies received an iodized hypoallergenic formula and 26 babies different commercial formulas only partly iodized. From 4 parameters to estimate iodine supply of the babies (urinary iodine concentration microgram/dl, iodine/creatinine ratio microgram/g; estimated daily iodine excretion microgram/d, estimated daily iodine excretion corrected for body surface area microgram/dl 1.73 m2) estimated daily iodine excretion was the most useful parameter. Breast fed babies showed a significantly lower estimated daily iodine excretion (median 32 microgram/d) than babies fed the hypoallergenic (52 microgram/d) or a commercial formula (54 micrograms/d). In Germany with an insufficient iodine supply of pregnant and lactating mothers breast fed infants run a risk for an insufficient iodine supply. Furthermore, supplementation of infant formulas with iodine started in 1990/1991 proved to be a sufficient measure to correct iodine deficiency.
Plasma glutathione peroxidase activity is markedly reduced in dietetically treated patients with PKU or MSUD in comparison to health children of the same age. This is due to the low selenium content of their diet. During supplementation with yeast rich in selenium (200 micrograms selenium per day) for 3 months 2 healthy adults did not show any significant change of their plasma GSHPx activity. 5 dietetically treated patients with PKU or MSUD and a reduced selenium state showed a rapid increase of the plasma GSHPx activity after selenium supplementation were started with 120 micrograms Se/m2 x d. The values doubled within the first two days and reached a plateau after 1--3 weeks. The patients showed no clinical anomalities before or during the selenium supplementation besides the inherited defect of amino acid metabolism. Plasma GSHPx activity seems to be a good indicator of short-term changes of selenium intake in patients with reduced selenium state.
Uptake of aluminum (Al), cadmium (Cd), copper (Cu), lead (Pb), and zinc (Zn) from aqueous solutions by human scalp hair (water/hair = 100:1) has been studied in the concentration range 0-50 mg/L. Hair metal levels were determined by a wet digestion procedure and atomic absorption spectrometry. Under conditions used, uptake followed a sigmoid concentration-response relationship. The order of binding capacity of hair to the metals was as follows: Al greater than Cd greater than Cu greater than Pb greater than Zn. Using logit transformation 50% saturation was evaluated at the following metal concentrations (hair metal concentration of saturation is given in parenthesis): 0.34 mg/L for Al (0.154 mg/g); 1.82 mg/L for Cd (0.363 mg/g); 2.21 mg/L for Cu (0.651 mg/g); 2.52 mg/L for Pb (0.986 mg/g); 23.84 mg/L for Zn (1.616 mg/g). Percentage elution of trace metals from hair after treatment with metal-enriched solutions by five different procedures ranged from 14.5 to 46.5% for Al, from 11.1 to 28.9% for Zn, from 11.5 to 28.4% for Pb, from 8.9 to 13.6% for Cd, and from 0.1 to 11.8% for Cu. In addition, trace element concentrations were measured in tap water samples and shampoos.