[Breast feeding of infants with phenylketonuria]. / Stillen von Säuglingen mit Phenylketonurie.

Five infants with phenylketonuria who received their phenylalanine primarily from breast milk were compared with five other infants with PKU who received infant formula as their primary phenylalanine source. No significant differences between both groups were observed for weight gain, the daily phenylalanine intake, and mean plasma phenylalanine concentrations. This study shows that breast feeding can be continued in young infants with their difficult to predict weight gain and daily changing phenylalanine requirements.

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)

Isolation and characterization of monoclonal antibodies directed against different epitopes of type-1-like fimbriae from a multifimbriated E. coli strain.

Monoclonal antibodies (MAbs) were raised against purified fimbriae isolated from the uropathogenic E. coli strain WF96 (O7:K1:H6:F11rel,F10). This strain expresses at least four different types of fimbriae. 11 MAbs were selected for further characterization. They are directed against epitopes of a fimbrial type which is composed of 19.5 kDa subunits. It resembles type 1 fimbriae with regard to its high resistance to disruption by SDS. The MAbs were tested for crossreactivity to type 1 fimbriae and other fimbriae with known F-serotypes by ELISA. Two of these MAbs, Pili III 2F7 and Pili III 68C5, were directed against an epitope which was also found on MS fimbriae (type 1). Thus type 1 like fimbriae of E. coli WF96 share at least one epitope with MS fimbriae. Nevertheless, the antigenic properties of these two fimbrial types were found not to be completely identical, since all the other 9 MAbs were not crossreactive. The MAbs were not able to inhibit haemagglutination of erythrocytes of different species and thus not directed against adhesive sites of the fimbriae. All the epitopes detected by MAbs were accessible on native fimbriae; some of them were also detectable on denatured fimbrial subunits. Electron micrographs revealed that these epitopes were evenly distributed on the fimbrial organelle.

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.

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.

Plasma tocopherol and tocopherol to lipid ratios in a normal population of infants and children.

The plasma tocopherol concentrations were measured by HPLC in 73 apparently healthy West German children aged from 1 to 14 years and in 7 cord blood samples and 5 infants below 1 year of age. Total tocopherols ranged from 584 to 2024 micrograms/dl in the children above 1 year of age (mean 1046 +/- 283 micrograms/dl) and from 511 to 1155 micrograms/dl in the infants below 1 year of age (mean 879 +/- 270 micrograms/dl). The total tocopherol/total lipid ratio-representing the reliable index for vitamin E status-was far above 0.6 mg/g lipid, a level which is regarded as the lower limit of normal (range 1.23 to 4.09 mg/g total lipid in the older children and 1.52 to 2.05 in the infants below 1 year). A positive correlation was found between plasma lipids and total tocopherol (r = 0.71). Our investigation demonstrated an excellent vitamin E status in the children investigated which is considered to reflect the high supply of West German food with PUFA and vitamin E.

Trans fatty acid content of selected brands of West German nut-nougat cream.

The fatty acid composition including trans fatty acids of 12 brands of nut-nougat creams were analyzed by capillary gas chromatography. The creams consisted mainly of sugar and partially hydrogenated vegetable oil. The lipid content, which was quantified gravimetrically, amounted to between 30 and 38.2% in the different brands. The fatty acid composition varied considerably between the different creams. Linoleic acid, the major polyunsaturated fatty acid (PUFA), ranged from 12 to 39%. Palmitic acid (16:0), which was the main fatty acid, varied from 9 to 27%. The total trans fatty acid content of the 12 creams ranged from 0.9 to 12.3%. Only two of the creams contained less than 1% of trans fatty acids; 18:1t was the trans fatty acid found in the greatest amounts, whereas 16:1t and 14:1t were only found in trace amounts. Three samples had amounts of 18:2tt, 18:2ct, and 18:2tc between 0.7 and 1.06%; only small amounts of linoleate isomers were detected in the other creams. Our results show that trans fatty acids are present in every brand of chocolate cream tested. Since the potential risk of arteriosclerosis and cancer resulting from the consumption of trans fatty acids is not yet clear, different ways of production should be used in order to eliminate them from the creams that are a preferred bread spread of infants and children.

[Endocrine-induced forms of hypoglycemia]. / Endokrin bedingte Hypoglykämieformen.

Hypoglycemia due to endocrine disorders commonly manifests itself during the newborn period or in early infancy. Hyperinsulinism accounts for more than 50% of all cases of persistent hypoglycemia occurring during the first year of life. The underlying cause of hyperinsulinism is probably a functional dysregulation of the B cells of the pancreas. These patients suffer from severe, sometimes life-threatening hypoglycemia during their first hours and days of life. Hypoglycemia cannot be prevented by a high carbohydrate supply exceeding the endogenous glucose production rate of the liver. The diagnosis of hyperinsulinism is established by an increased insulin concentration (above 10-12 mU/l) during hypoglycemia (blood glucose less than 40 mg/dl). Macrosomia of these newborns without a history of maternal diabetes supports the diagnosis. Most of the patients require a 90%-95% pancreatectomy in order to prevent severe brain damage, as medical and dietary treatment are ineffective. Hypoglycemia due to panhypopituitarism, growth hormone deficiency and inherited glucocorticoid deficiency also develops during early infancy, but can be discriminated from hyperinsulinism by one important criterion: hypoglycemia can be avoided by continuous glucose infusion dosed at the endogenous glucose production rate. If additional symptoms are lacking the diagnosis has to be established by the plasma concentrations of the different hormones and provocation tests.

Status of plasma and erythrocyte fatty acids and vitamin A and E in young children with cystic fibrosis.

The fatty acid (FA) status in young children with cystic fibrosis (CF) was investigated. The FA composition of the plasma cholesterol esters (CE) and phospholipids (PL) and of the erythrocyte phosphatidylcholine (PC) and phosphatidylethanolamine (PE) was estimated in 11 patients with CF and pancreatic insufficiency (median age, 3.0 years; range, 3 months to 7 years) and in 10 age-matched controls. Linoleic acid values ranged widely but were not significantly reduced in the patients. However, arachidonic acid (20:4w6) and docosahexaenoic acid were decreased in all lipid classes. The ratio of dihomo-gamma-linoleic acid to arachidonic acid (20:3w6/20:4w6) was significantly increased in the patients, indicating an impairment of FA metabolism (delta 5-desaturation). Plasma retinol concentrations were normal and did not differ between the supplemented patients and controls. Plasma total tocopherols and alpha-tocopherol and their ratios to total lipids were significantly reduced in the CF patients, but all values were within the normal ranges for the pediatric age group, and no child met the criterion for vitamin E deficiency.

Neurological manifestations in three German children with AIDS.

We report the neurological findings in two children with AIDS and one child with lesser AIDS. The first patient developed acute encephalopathy 37 months after having received a blood transfusion from a HTLV-III positive donor. CCT showed ring-enhancement and hypodense lesions with homogenous enhancement. Autopsy revealed CNS toxoplasmosis. The second child with AIDS, born to an iv drug-addicted mother, had one seizure at four months of age, but other neurologic signs were absent. She died of pneumonia due to Pneumocystis carinii at seven months of age. Postmortem examination of the brain revealed extensive nerve cell damage in the cerebral cortex and cerebellum, probably due to terminal hypoxemia and not AIDS-related. In both children clinical features of childhood AIDS like failure to thrive, lymphadenopathy, oral thrush and chronic pulmonary infiltrates were absent. The hallmark of the third child's clinical course was a progressive loss of psychomotor abilities with onset of the neurological symptoms nine months before other signs of AIDS occurred. AIDS should be suspected or excluded in children at increased risk for AIDS presenting with either acquired atypical CNS infection or unexplained developmental regression, even in the absence of other clinical symptoms of pediatric AIDS.

[Type I glycogenosis: extending therapy with uncooked cornstarch]. / Glykogenose Typ I: Erweiterung der Therapie mit ungekochter Maisstärke.

Normal or slightly elevated blood lactate levels and normal to slightly elevated lactate-/creatinine-ratios in 24-h-urine were found in 12 patients (0.9 to 16 years) with glycogenosis type I under conventional treatment with nocturnal gastric drip feeding with maltodextrine combined with frequent daytime feedings. Replacing the nocturnal gastric drip feeding by two doses of uncooked cornstarch suspended in water (single dose 1.4-2.0 g/kg body weight) 4 patients at the ages of 10 to 16 years obtained similar metabolic control. A 7-year old patient with glycogenosis type Ib showing an extremely low fasting tolerance attained stable blood glucose levels by eating two doses of uncooked cornstarch in the morning, so that she was able to attend school. A 2-year old patient received 2-3 g cornstarch/kg body weight every 6 h resulting in constant blood glucose levels, so that she was able to emigrate to Turkey. The therapy with uncooked cornstarch is suitable to augment the therapy of some patients with glycogenosis type I.