[The phenylalanine stress test in the classification of patients with phenylketonuria]. / Der Phenylalanin-Belastungstest in der Klassifikation der Phenylketonurie-Patienten.

Classification of defects of phenylalanine hydroxylase is usually performed by a phenylalanine loading test according to Blaskovics. This loading test has some drawbacks, especially negative side effects for the patients. We found a correlation between the result of the loading test and the dietetic phenylalanine tolerance. Therefore the trouble of undergoing the loading rest may be spared many patients.

[Alternative nutrition of children. Its advantages and risks]. / Die alternative Ernährung des Kindes. Ihre Vorzüge und ihre Risiken.

Food faddism is a growing scenery. Since children are also involved in these unusual food habits of their parents, the pediatrician is faced with new nutritional problems. The consequence may be failure to thrive in infancy and childhood noticed mainly in families with strictly vegetarian food habits. Moreover the pediatrician should know the possible sequelae of all the other forms of food faddism. Only a careful nutritional history paralleling the usual medical history may then uncover the origin of a chronic failure to thrive. First and foremost infants after weaning are at special risk in respect to protein, calcium and vitamin deficiencies.

[Pancreatic enzyme replacement in mucoviscidosis (CF): clinical evaluation of a gastric acid-resistant pancreatin preparation in encapsulated microtablet form]. / Pankreasenzymsubstitution bei Mukoviszidose (CF): Klinische Prüfung eines magensäureresistenten Pankreatinpräparates in verkapselter Mikrotablettenform.

Pancreatic enzyme replacement therapy was tested in 17 patients with CF. Severe pancreatic insufficiency had been established by stool fat determination prior to therapy. Two enzyme preparations were tested that were equal in acid protection, but were different in the release of enzyme activities. Complaints, body weight, and stool frequency were not influenced by changing preparations. Stool weight and stool fat excretion did not show statistically significant differences, when the preparations were used in lipase equivalent doses. By using one of the preparations tested (Panzytrat 20,000), it was possible to reduce the number of capsules that had to be taken daily. Mild to moderate steatorrhoea was noted in spite of pancreatic enzyme replacement in all the CF patients. Massive steatorrhoea was seen in two patients with good nutritional status, due to high fat intake. It was proposed that moderate steatorrhoea may be tolerated in CF, as long as the nutritional status is adequate. If this is not the case, energy intake and, as a consequence, the dosage of pancreatic enzyme replacement therapy have to be raised.

Metabolic conversion of L-[U-14C]phenylalanine to respiratory 14CO2 in healthy subjects, phenylketonuria heterozygotes and classic phenylketonurics.

Ten healthy volunteers, 12 classic phenylketonuria (PKU) heterozygotes, and 5 classic phenylketonurics have been loaded orally with a mixture of 5 microCi of L-[U-14C]phenylalanine plus 25 mg/kg of L-[2H5]phenylalanine. For 3 h thereafter, carbon-14 activity in expired air and total carbon dioxide were measured continuously and the levels of L-phenylalanine and L-tyrosine in plasma were determined in six blood samples. After 3 h, 15.1 +/- 2.1% of the applied dose of radioactivity was recovered in the expired air of the healthy subjects, compared to 10.1 +/- 2.2% for PKU heterozygotes and 0.32 +/- 0.18% for classic phenylketonurics. The integrated activity expired provides a discrimination between normals and PKU heterozygotes with a classification error of about 13% compared to an error of about 9% based on the fasting L-phenylalanine over L-tyrosine ratio. A combination of these two parameters in a two-dimensional discriminatory analysis reduces the classification error to less than 1%. An intraindividual correlation between the absolute activity expired and the formation of L-[2H4]tyrosine formed is shown, confirming that ring hydroxylation of L-phenylalanine to L-tyrosine is mandatory in the catabolism of L-phenylalanine to carbon dioxide.

[Sociocultural aspects of child nutrition--food faddism]. / Sozio-kulturelle Aspekte der Kinderernährung--Food Faddism.

Today pediatricians are confronted with an increasing number of unconventional feeding practices. Most frequently encountered are the various forms of vegetarian diets. These as well as numerous other unconventional foods may result in a failure to thrive when fed to children routinely. Since in general it is not possible to influence the families' eating practices, physicians should know the risks of unconventional diets, such as hypoproteinemia, calcium deficiency and deficiencies of vitamin B12 and vitamin D and the respective clinical symptoms. Predominantly young people decide to change their life-style, unconventional eating practices being part of it.

[Neonatal screening for mucoviscidosis using the BM-test-meconium]. / Neugeborenen-Screening auf Mucoviscidose mit dem BM-Test-Meconium.

In the Federal Republic of Germany screening for cystic fibrosis by the albumin content of meconium (BM-test) is performed on most newborns. In this paper arguments for and against this test are discussed. Arguments in favour of BM-test-screening are the possibility of early diagnosis, early treatment and genetic counseling. Drawbacks of the test are false positive and false negative results. The authors conclude that this screening test should not be performed.

A case of lipogranulomatosis Farber: some clinical and ultrastructural aspects.

A 20-month-old girl showed typical clinical signs of Farber disease: hoarseness since birth, and periarticular subcutaneous painful nodules. Complete deficiency of acid ceramidase activity was found in cultured skin fibroblasts. An electron microscopic examination of a dermal nodule disclosed pathognomonic tubular inclusions in histiocytes. In epidermal cells zebra-body-like and needle-like lysosomal inclusions were found. Their ultrastructure is different from that of the intrahistiocytic lysosomal inclusions. Probably three clinical types of Farber disease may be distinguished according to the symptomatology and the course of the disease: a severe type, an intermediate type and a relatively mild type. The activity of acid ceramidase does not correlate with prognosis of the disease, while a correlation between first appearance of dermal nodules and clinical course appears likely.

[Comparative studies on the rotavirus syndrome following infection with human rotavirus of the subgroup 1 or 2]. / Vergleichende Untersuchungen über das Rotavirussyndrom nach Infektion mit Humanrotavirus der Subgruppe 1 oder 2.

Human rotavirus infection which heals spontaneously causes gastroenteritis in newborns and infants. 150 pediatric patients infected with rotavirus as diagnosed by ELISA suffered from diarrhoea for an average of 3 days, from vomiting for 1 day, and/or fever for 1-2 days. Nowadays this disease is known as "human rotavirus syndrome". Human rotaviruses can be divided into at least 4 serotype antigens and some 3 further subgroup antigens. The serotype antigens are only detectable biologically (e.g. by neutralization test), whereas the subgroup antigens can be demonstrated as specific proteins by a solid-phase test (ELISA). This study investigated whether an infection with human rotavirus of subgroup 1 (21%) or 2 (77%), which occur most frequently causes different degrees of severity of the rotavirus syndrome. The clinical comparison of 27 (subgroup 1) and 98 (subgroup 2) infected patients shows that the disease is not significantly different. This means that the detection of subgroup antigens 1 and 2 does not result in a different prognosis for the disease. The diagnosis of subgroup antigens after human rotavirus infection is therefore clinically important only for the detection of nosocomial infections, especially due to the rarely occurring subgroups 1 and 3.

Detection of heterozygous carriers for phenylketonuria by a L-[2H5]phenylalanine stable isotope loading test.

Oral loading with 25 mg/kg of pentadeuterated L-phenylalanine has been used for the discrimination between normozygous subjects and carriers for phenylketonuria. The test provides five types of data derived from plasma Phe and Tyr concentrations on which the discrimination can be based: fasting phenylalanine/tyrosine ratios, total Phe levels, total Phe/total Tyr ratios, absolute L-[2H5]phenylalanine plasma levels, and L-[2H5]Phe/L-[2H4]Tyr ratios. Absolute L-[2H4]Tyr and total L-Tyr concentrations provide the poorest discrimination with statistical classification errors around 30%. The corresponding classification error of fasting Phe/fasting Tyr ratios was circa 13%, and both labelled Phe/labelled Tyr and total Phe/total Tyr concentration ratios gave minimal errors below 2%.

[Current views on breast feeding]. / Neues bei Frauenmilchernährung.

One of the greatest advantages of feeding exclusively breast-milk is the continuous provision of immunoglobulin A, especially during the first days of life, and of leucocytes with macrophage function as well as unspecific, antiinfectious agents like lactoferrin, lysozyme and neuraminic acid. It seems, that the organism is protected against allergic reactions at the mucosa level of the small intestine caused by the penetration of "foreign" protein by feeding exclusively breast-milk especially during the first weeks and months of life. During the first months of the infant's life an increased supply of iron results from the higher content of iron in breast-milk as compared to cow's milk, and the better absorption of the iron from breast-milk. Just because of this (the better provision with iron from natural food) solid foods should not be added to the infant's diet before 6 months of age. One of the disadvantages of breast-feeding is the passage of unwanted substances from breast-milk to the infant. First of all the chlorinated hydrocarbons have to be mentioned within this context. However, a decreasing tendency can be assumed according to recent investigations. An increasing tendency in breast-milk, though not confirmed, seems possible only for the polychlorinated biphenyls. Nevertheless, for the pediatrician no reason to advise against breast-feeding results from the unwanted admixtures of chlorinated hydrocarbons in breast-milk. One should rather vigorously propagate to feed as many children as possible exclusively with breast-milk over a period of 4 to 6 months.

Plasma amino acid pattern at noon in early treated hyperphenylalaninemic, phenylketonuric, and normal children.

In 41 hyperphenylalaninemic early treated children (classical phenylketonurics and hyperphenylalaninemic variants) on diet, aged 2 months to 15 years, the plasma amino acid pattern at noon was compared with that in 31 normal age-matched controls. In contrast to previously published results in infants, the mean levels of single amino acids deviated, with the exception of phenylalanine, only slightly from that of normal controls in patients of all five age groups investigated. Constant findings were a tendency towards low mean levels of arginine in younger patients and elevated levels of lysine, serine, and histidine which were found in patients of all age groups.

Survival time in cystinosis. A collaborative study.

In a retrospective study the overall survival time of 205 cystinotic patients of six countries was determined. The median survival time was 8.5 years. The median time for 'renal death' (age at death due to uraemia or age at starting renal replacement therapy) was 9.2 years. The youngest patient dying of renal death was 5.2 years. No sex difference in survival time was noticed. Furthermore no difference in survival time was noted between the different countries. The analysis of the overall survival curve indicates no clear differences between the infantile and adolescent types of cystinosis.