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Biomedical subjects

H J Bremer

Publications and source records attributed to H J Bremer.

At least 19 recordsLinked to original sources
PubMed1995

Glutathione and association antioxidant systems in protein energy malnutrition: results of a study in Nigeria.

Marasmus and kwashiorkor are manifestations of protein energy malnutrition. The pathophysiology of these disorders is poorly understood. We studied a number of blood antioxidants [glucose-6-phosphate dehydrogenase (G6PDH), glutathione reductase (GR) and its cofactor flavin adenine dinucleotide (FAD), the tripeptide glutathione as the major nonprotein thiol], serum albumin, and retinol-binding protein in 12 children suffering from kwashiorkor with all classical symptoms, in 13 patients with clinically severe marasmus, in 19 marasmic but active children, and in 23 controls. Significant changes were observed for erythrocyte glutathione and correspondingly for nonprotein thiols in whole blood (0.72 +/- 0.29 mM thiols in controls, 0.50 +/- 0.22 mM in marasmus, 0.35 +/- 0.23 mM in severe marasmus, and 0.22 +/- 0.13 mM in kwashiorkor). These differences were paralleled by a decrease in serum albumin concentration so that the molar ratio of nonprotein thiols/albumin had an average value of approximately 1.5 in all groups. The erythrocyte glutathione-reducing system, represented by G6PDH and glutathione reductase, showed only slight differences among the four groups of children; the supposition that kwashiorkor occurs predominantly in children with aberrant G6PDH could not be substantiated. Unexpectedly, erythrocyte FAD, an index of riboflavin status, was normal in most malnourished patients. Discussed is the prospect of administering glutathione in kwashiorkor patients.

Blood Proteins↗
PubMed1995

Nutrient intake and food consumption of adolescents and young adults with phenylketonuria.

Food and nutrient intake was assessed in 99 PKU patients (12-29 years old) by two food protocols (7 days and 4 days, respectively). Ninety-three patients completed at least one 7-day food record and 83 both records. Nineteen of 93 patients had already stopped taking the phenylalanine-free amino acid mixture (AAM), which is enriched with vitamins, minerals and trace elements. Plasma phenylalanine levels in this group were significantly higher than in patients who were still taking the AAM. Even without the AAM, protein intake still met the recommendations, but thiamin, riboflavin, folate, calcium and iron levels were below 80% of the US RDA in most patients. For those still taking the AAM, calorie, protein, vitamin and mineral intakes were above the recommendations. The diet was characterized by a low intake of fiber (median 14 (range 8-35) g/day), fat (27 (10-47) cal%) and cholesterol (75 (13-417) mg/day) as well as a high ratio of polyunsaturated/saturated fatty acids (0.7 (0.2-2.4)). Problems with dietary compliance in adolescents and young adults may lead to a combination of marginal nutrient intake and high phenylalanine levels.

Adolescent↗
PubMed1995

Fatty acid composition of the milk of well-nourished Sudanese women.

The fatty acid (FA) composition of samples of breast milk obtained from well-nourished Sudanese women was determined by capillary gas chromatography. Saturated fatty acids (SFA) constituted 46%, monoenoic acids (MONOENE) 33% and polyunsaturated fatty acids (PUFA) accounted for 21% of total fatty acids. The mean value (18.28%) of the essential fatty acid linoleic acid was comparable to the levels reported for well-nourished mothers from industrialised countries. The proportions of fatty acids synthesised de novo in the mammary gland (10:0, 12:0, 14:0) were less than expected from published studies of mothers consuming low fat diet averaging 17.4%. The amount of 22:6 n-3 which is synthesised from 18:3 n-3 and also taken up by consumption of fish were found to be low. The possible nutritional implications of the low n-3 fatty acids for the infants should therefore be investigated.

Adolescent↗
PubMed1994

Neurological manifestations of organic acid disorders.

Neurological manifestations are very common and can be the leading and/or presenting feature in organic acid disorders, sometimes in the absence of metabolic derangement. Review of the time course and presentation of neurological disease in organic acid disorders reveals characteristic clinical findings of ataxia, myoclonus, extrapyramidal symptoms, metabolic stroke and megalencephaly. A group of organic acid disorders presents exclusively with neurological symptoms. These include glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I), succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria), mevalonic aciduria, N-acetylaspartic aciduria (Canavan disease) and L-2-hydroxyglutaric aciduria. As a group these "cerebral" organic acid disorders appear to remain often undiagnosed and their true incidence is much less well-known than that of the "classical" organic acid disorders. Unfortunately, stringent guidelines for a clinical preselection of neuropaediatric patients to be investigated for organic acid disorders cannot be provided. Today, screening for neurometabolic disorders should be as comprehensive as possible and include determinations of amino acids, purines and pyrimidines and markers of peroxisomal function in addition to organic acid analysis.

Brain Diseases, Metabolic↗
PubMed1993

Scaly skin alterations and plasma fatty acids in Congolese children.

Scaly skin alterations on the surface of the legs are frequently found in African children. Because similar signs occur in essential fatty acid deficiency, the fatty acid status of a group of African children with (n = 10) and without (n = 27) such skin alterations was determined. Analysis of the fatty acid composition of the plasma phospholipid and cholesterol ester fractions as well as clinical examinations were performed. Constantly low levels of linoleic acid and arachidonic acid were not associated with the occurrence of scaly skin alterations, which were also found in children with normal values for these polyunsaturated fatty acids. It is suggested that scaly skin alterations in Congolese children are not a sign of essential fatty acid deficiency.

Adolescent↗
PubMed1993

Cervical lymphadenitis in a child caused by a previously unknown mycobacterium.

Acid-fast bacilli were isolated from lymph nodes of an immunocompetent child presenting with unilateral cervical lymphadenitis. The slowly growing mycobacterium could not be identified by traditional methods. Direct sequencing of the enzymatically amplified 16S rRNA gene revealed a unique sequence belonging to a previously unrecognized mycobacterium. Direct 16S rDNA sequencing enables definitive identification of mycobacterial isolates. The method is useful for rapid recognition of previously unrecognized pathogens.

Base Sequence↗
PubMed1992

[Selective screening for amino and organic acid inborn errors].

Aminoacidopathies and organoacidopathies are the most common acute life-threatening inborn errors of metabolism in the neonatal period. In the Federal Republic of Germany approximately 1 out of 5000 newborns is currently diagnosed as having an aminoacidopathy and approximately 1 out of 9000 newborns an organoacidopathy. Especially in the case of organoacidopathies there is substantial evidence that this number represents an underestimation. Many cases of amino- and organoacidopathies are still likely to remain undiagnosed. The incidence figures would warrant neonatal population screening for these disorders; however, the complexity and expense of the current methods prohibit this approach. Instead specialized investigations are carried out in children who develop symptoms indicative of an inborn error of metabolism. This approach is called selective screening. Early diagnosis, therefore, rests on a high degree of suspicion. In this paper clinical and laboratory findings of amino- and organoacidopathies are summarized. They can be nonspecific and misinterpreted. In the neonate and infant the presentation is commonly that of an acute overwhelming disease, whereas in the older child unexplained mental and/or neurological problems are often the leading symptom. We present an algorithm for the quick and comprehensive diagnosis of acutely presenting inborn errors of metabolism using commonly available parameters. However, in many cases the definitive diagnosis is not reached by selective metabolic screening of a single urine specimen of a patient, but requires close cooperation between the referring physician and the metabolic specialist. Multiple analyses, sometimes of different physiological fluids, or even in vivo and in vitro loading tests may be necessary.(ABSTRACT TRUNCATED AT 250 WORDS)

Acidosis↗
PubMed1991

Facts and artefacts in mevalonic aciduria: development of a stable isotope dilution GCMS assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detection.

A stable isotope dilution assay using D3-mevalonic acid was developed and applied to the study of mevalonic aciduria. The method also appears to be suitable for the evaluation of different therapeutic regimens in patients with hypercholesterolemia. Mevalonic acid was isolated by liquid partition chromatography and quantified as the underivatized lactone by means of ammonia chemical ionization selected ion monitoring capillary gas chromatography-mass spectrometry. In heterozygotes there was significantly greater urinary excretion of mevalonic acid, while the range of enzymatic activity of mevalonate kinase showed an overlap with that of controls. The analysis of amniotic fluids of two pregnancies at risk for mevalonic aciduria showed a 3277-fold elevation as compared to controls in the first case, diagnostic of an affected fetus, and a normal value in the second one. Mevalonic acid concentration was much increased in tissues of the affected and aborted fetus. Concentrations ranged from 840 to 1120 mumol/kg in various tissues and were as high as 1810 mumol/kg in brain. Concentrations in control fetal tissues were approximately 1 mumol/kg.

Adult↗
PubMed1991

[Macrocephaly as the initial manifestation of glutaryl-CoA-dehydrogenase deficiency (glutaric aciduria type I)].

Glutaric aciduria type I is due to an impaired glutaryl-CoA-dehydrogenase with an increased urinary excretion of glutaric and 3-OH glutaric acid. Typically, the clinical course until the sixth month or even 3rd year of life is symptom free, and only later an encephalopathic crisis develops. The only symptom of our 4 patients was macrocephaly (head circumference greater than 97. percentile) in early infancy. 3 of them suffered from an encephalopathic crisis at 8 months to 3 years of age; during that time they lost already established abilities as sitting, walking and speaking, and developed choereoathetotic movements. One child aged 15 months was normal beside it's macrocephalus. All children were treated with a diet low in lysine (80 mg/kg BW/day), tryptophane (21 mg/kg BW/day), and by supplementation of L-carnitine (200 mg/kg BW/day) and riboflavine (200 mg/day) and the motorically disturbed children received Lioresal 1 mg/kg BW/day. The effect of this treatment cannot be evaluated so far, but there is evidence that the dietetic therapy together with carnitine supplementation may prevent further deterioration in affected, or an encephalopathic crisis in unaffected patients. Therefore we suggest to investigate organic acids in urine in every child or infant with macrocephalus to exclude glutaric aciduria type I.

Amino Acid Metabolism, Inborn Errors↗
PubMed1991

Glutaryl-coenzyme A dehydrogenase deficiency: a distinct encephalopathy.

Clinical course, diagnostic and therapeutic management, and neurodevelopmental outcome were evaluated in 11 patients with glutaryl-coenzyme A dehydrogenase deficiency. In 9 patients macrocephalus was present at or shortly after birth and preceded the neurological disease. In 7 children an acute illness resembling encephalitis appeared after a period of normal development; 2 had developmental delay and progressive "dystonic cerebral palsy." Later, all 9 displayed typical signs of a disorder of the basal ganglia. In 1 patient with macrocephalus the disorder was diagnosed before the onset of neurological disease; in another it was diagnosed prenatally. Computed tomography and magnetic resonance imaging scans revealed severe generalized cerebral atrophy, most striking in the frontal and temporal lobes in 10 patients. Further deterioration was halted after initiation of treatment consisting of low-protein diets, special formulas low in lysine and tryptophan, and supplements of riboflavin and L-carnitine. Only 1 patient showed a slight clinical improvement. Later, dietary therapy was discontinued in 2 older patients and relaxed in a third without observed adverse effects. Two patients in whom treatment could be initiated before the onset of neurological symptoms have developed normally. However, duration of follow-up (6 and 29 months) does not yet allow classification of glutaryl-coenzyme A dehydrogenase deficiency as a treatable disorder. Total body production of glutaric acid, reflected in the daily urinary output, was efficiently reduced by therapeutic measures. Levels of glutaric acid in plasma and cerebrospinal fluid remained unchanged, which may in part explain the overall unsatisfactory outcome. All patients presented with a severe secondary deficiency of carnitine.(ABSTRACT TRUNCATED AT 250 WORDS)

Child, Preschool↗
PubMed1990

Fatty acid composition of phospholipids of plasma and of mononuclear blood cells in children with allergic asthma and the influence of glucocorticoids.

Fatty acid (FA) composition of plasma phospholipids and phospholipids extracted from peripheral mononuclear white blood cells (MNC) was investigated in 11 allergic asthmatic children (age 8.9 +/- 4.6 years), in 10 age-matched non-allergic healthy controls and in 14 allergic and non-allergic children with an acute attack of asthma, who had received prednisolone medication for 2-4 days. In allergic asthmatics eicosapentaenoic acid (20:5n-3) was significantly elevated in both plasma and MNC. The relative amount of 20:5n-3 in MNC as well as in plasma correlated positively with increasing levels of total serum IgE (P less than 0.02). The pattern of the other FAs in plasma and of MNC phospholipids did not differ between allergic asthmatic and non-allergic control children. In children with an acute attack of asthma, who had been treated with glucocorticoids (2 mg prednisolone/kg body weight for 2-4 days), distinct changes of relative FA composition of phospholipids were restricted to plasma, where some very long chain FA (22:4n-6, 22:5n-6) were elevated. No significant changes in FA from MNC phospholipids could be observed after glucocorticoid treatment. These findings may indicate a possible role of 20:5n-3, the precursor of "group 3" eicosanoids, in allergic asthmatic children.

Adolescent↗
PubMed1990

Vitamin E status in Sudanese children with protein-energy malnutrition.

Total tocopherols and alpha-tocopherols were estimated in the plasma of children with severe malnutrition (14 marasmus; 11 marasmic kwashiorkor; five kwashiorkor) and related to the total plasma lipids and different plasma lipid classes. If the mere plasma concentrations were taken as an index of the vitamin E status, five children with marasmus, five children with marasmic kwashiorkor, and two children with kwashiorkor would have been regarded as deficient (less than 500 micrograms/dl). However, if total tocopherols and alpha-tocopherols were related to the total plasma lipids, all malnourished children--except one--showed values within the limits found in healthy American children. The study shows that low tocopherol/lipid ratios are not a constant feature in severely malnourished children.

Child, Preschool↗
PubMed1990

Vitamin E status of Congolese children in a rural area.

The role of vitamin E in severe malnutrition is controversially discussed. In order to evaluate the vitamin E status of unselected African children the plasma tocopherol levels of 52 children from a village in the People's Republic of Congo were assessed by HPLC and related to the plasma lipid values. Although plasma concentrations of total tocopherols (mean 351.1 +/- 59.4 micrograms/dl) and alpha-tocopherol (mean 313.3 +/- 57.0 micrograms/dl) were found to be low, normal ratios of total tocopherols to total lipids (mean 0.99 +/- 0.17 mg/g) and alpha-tocopherol to total lipids (mean 0.89 +/- 0.09 mg/g) were estimated. It is concluded that plasma vitamin E levels should be related to plasma lipids if populations are monitored in which low lipid concentrations have to be expected. These data on Congolese children may be used for comparison if the vitamin E status in other agrogeographical areas of Africa or in clinically abnormal groups is investigated.

Adolescent↗