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Aims.Little is known about how behavioural and psychological symptoms of dementia (BPSD) manifest in the general hospital. The aim was to examine the frequency of BPSD in general hospitals and their associations with nursing staff distress and complications in care.Methods.Cross-sectional representative study with 1469 patients aged ≥65, including 270 patients with dementia, of 33 randomly selected general hospitals in Germany. BPSD and complications were reported by nurses.Results.Overall frequency of BPSD was higher in patients with dementia (76%) than without (38%). The most frequent symptoms in patients with dementia were nighttime disturbances (38%), depression (29%) and aberrant motor behaviour (28%) and the most distressing symptoms for nursing staff were delusions, aggression and nighttime disturbances. The overall frequency of BPSD increased from 67% in mild dementia, to 76% in moderate dementia and to 88% in severe dementia. The most frequent symptoms in patients without dementia were depression (19%), nighttime disturbances (13%) and irritability (13%). The most distressing symptoms were aggression and delusions, while the same symptoms were consistently rated as less distressing than in patients with dementia. Factor analysis revealed three independent groups of BPSD that explained 45% of the total variance. First, expansive symptoms (aggression, irritability, nighttime disturbances, aberrant motor behaviour and disinhibition) were frequent, distressing for nursing staff and associated with many complications. Second, psychotic symptoms (delusions and hallucinations) were infrequent, distressing and associated with some complications. Third, affective symptoms (apathy, anxiety and depression) were frequent, non-distressing and associated with few complications. The results did not change when cases with delirium were excluded from both groups.Conclusions.BPSD are common in older hospital patients with dementia and associated with considerable distress in nursing staff, as well as a wide range of special treatments needs and additional behavioural and medical complications. Management strategies are needed to improve the situation for both patients and hospital staff.

Zusammenfassung: Die Studie beschreibt die Verteilung der in Gedächtnissprechstunden diagnostizierten Neuerkrankungen an präseniler Demenz und gibt eine Schätzung der Konsultationsinzidenz für die Stadt München und die umliegenden Landkreise. Berücksichtigt wurden 12 Gedächtnissprechstunden aus der Schweiz und aus Deutschland, darunter alle 4 Münchener Einrichtungen. Insgesamt wurden 267 Patienten mit einem Krankheitsbeginn im Alter von weniger als 65 Jahren erfasst. Davon waren nur 16 Patienten (6%) jünger als 50 Jahre. Männer und Frauen waren etwa gleich häufig betroffen. Häufigste Diagnose war die Alzheimer-Demenz (67%), gefolgt von frontotemporalen Degenerationen (13,5%) und von vaskulären Demenzen (5,6%). Die Konsultationsinzidenz belief sich auf 8,3 demenzielle Neuerkrankungen pro Jahr unter 100.000 Personen im Alter zwischen 50 und 64 Jahren, die Inzidenzrate der Alzheimer-Demenz betrug 6,3:100.000. Gedächtnisambulanzen erfüllen für Patienten mit präseniler Demenz offenbar eine wichtige Versorgungsfunktion, denn sie werden bevorzugt von jüngeren Patienten genutzt, und sie werden überwiegend in einem frühen Krankheitsstadium in Anspruch genommen.

Zusammenfassung: Das Modellprojekt INVADE (Interventionsprojekt zerebrovaskuläre Erkrankungen und Demenz im Landkreis Ebersberg) befasst sich mit Maßnahmen zur Prävention von Schlaganfall und Demenz. Schlaganfälle stellen in den industrialisierten Ländern die dritthäufigste Todesursache dar und sind gemeinsam mit den Demenzen eine der Hauptursachen für dauerhafte Behinderung. Im Rahmen dieses Modellprojekts soll geprüft werden, ob durch die konsequente Diagnose und Therapie definierter kardiovaskulärer Risikofaktoren (arterieller Hypertonus, Dyslipoproteinämie,Diabetes mellitus, Hyperhomocysteinämie, Nikotinabusus,Adipositas,Alkoholmissbrauch,Bewegungsmangel und depressive Symptome) die Inzidenz von Schlaganfällen und die Inzidenz dementieller Syndrome sowie der daraus resultierenden Pflegebedürftigkeit signifikant gesenkt werden kann. Dazu werden in einem definierten geographischen Gebiet, dem Landkreis Ebersberg bei München, im Rahmen der medizinischen Grundversorgung über einen Zeitraum von 8 Jahren Risikofaktoren erfasst und ggfs. eine Intervention durchgeführt. Das Projekt wird in Zusammenarbeit mit der AOK Bayern und den hausärztlichen Praxen im Landkreis durchgeführt. Teilnehmen können alle im Landkreis lebenden AOK-Versicherten der Geburtsjahrgänge 1946 und früher (10548 Personen).

Zusammenfassung: Unter Multiple Chemical Sensitivity (MCS) oder auch Idiopathic Environmental Intolerances (IEI) versteht man eine erworbene Störung mit multiplen rezidivierenden Symptomen, die im Zusammenhang steht mit vielfältigen Umwelteinflüssen, die von der Mehrheit der Bevölkerung gut vertragen werden, und deren Symptomatik durch keine bekannte medizinische oder psychische Störung erklärbar ist. Wir untersuchten prospektiv 120 Patienten, die sich innerhalb eines Jahres konsekutiv unter dem Verdacht auf MCS bzw. umweltbedingte Beschwerden in einer umweltmedizinischen Universitäts-ambulanz vorstellten, mit einem strukturierten psychiatrischen Interview (SKID). Daneben wurden internistische Routine- und toxikologische Spezialdiagnostik durchgeführt. Insgesamt konnten bei 100 Patienten eine oder mehrere psychiatrische Diagnosen gestellt werden. 53 Patienten erfüllten die diagnostischen Kriterien für somatoforme Störungen nach DSM-IV. Bei 39 Patienten wurden affektive Störungen in der Vorgeschichte bzw. aktuell diagnostiziert, bei 29 Patienten Angststörungen. In 25 Fällen lagen Substanzabhängigkeit oder -missbrauch (in der Vorgeschichte oder aktuell) vor. 16 Patienten wiesen Persönlichkeitsstörungen auf; bei 9 Patienten waren psychotische Störungen vorhanden. Dies ist die größte prospektive Studie zum Thema psychiatrische Morbidität und MCS unter der Verwendung eines standardisierten diagnostischen Interviews. Sie zeigt, dass viele Patienten mit umweltbezogenen Beschwerden offenbar an somatoformen Störungen, oftmals aber auch an anderen bekannten psychischen Erkrankungen leiden.

The present situation of neonatal mass screening for metabolic disorders in eleven European countries is presented. The only disease screened for on a population wide basis in almost all countries is phenylketonuria. Screening for congenital hypothyroidism has been started in most countries or is under active consideration. A priority list of disorders that should be screened for routinely in all newborns comprises congenital hypothyroidism, hyperphenylalaninaemia, galactosaemia and maple syrup urine disease. Other disorders, like adrenogenital syndrome, cystic fibrosis. Duchenne's muscular dystrophy, histidinaemia, or tyrosinaemia cannot be recommended for mass screening at present because of an unsatisfactory test procedure or lack of effective treatment.

In 34 children with phenylketonuria (PKU) treated early the prognostic value of the age on institution of the diet (within the first 3 months of life) and of the quality of dietary treatment was determined in two different ways: 1) following intelligence closely (IQ) and (2) evaluating the EEG development up to their 12th (n=34) and 15th (n=18) years of life as appropriate. In general, IQ scores were found to be normal from the 4th–15th years of life. In our group of patients there was no effect on the IQ of the timing of diet onset. Children with “strict” dietary control showed a significantly higher IQ than those with “loose” control. One hundred and fifty-four EEGs (10/20 system, awake with eyes closed) were recorded at intervals of 2 years and conventionally evaluated. The development of alpha-activity was found to be normal. Beta-activity was enhanced. Abnormal EEG findings like general slowing and generalized paroxysmal activity (GPA) with or without spikes were more frequent in children with PKU than in controls, with the exception of focal abnormalities. EEG abnormalities increased with advancing age independently of IQ development and showed no relation to either the age at the onset nor the quality of dietary treatment.

Three patients with maple syrup urine disease were treated during the acute neonatal stage. Multiple exchange transfusions proved to be a satisfactory means of achieving rapid clinical and biochemical improvement during this phase. On the other hand, evidence is provided suggesting that in addition to exchange transfusions, a high calorie intake above 150 Cal/kg body weight/day is necessary to lower the plasma concentration of the branched chain amino acids to near-normal levels. As long as this calorie intake was not provided, further exchange transfusions failed to lower the plasma leucine concentration to below 17 mg/100 ml in one patient. It is assumed that this high calorie intake is necessary to prevent the breakdown of endogenous protein. Treatment of acute episodes in maple syrup urine disease should therefore not only eliminate the elevated alpha-keto acids and branched chain amino acids quickly (i.e. by multiple exchange transfusions or peritoneal dialysis), but in addition should provide a high calorie intake.

Without Abstract:

Findings for unselected samples of the elderly in two urban populations — one in Mannheim, Germany (n=418) and the other in Sao Paulo, Brazil (n=111)-are compared and contrasted. Each study was restricted to persons aged over 65 years living in private households, and each employed a single-stage method of psychiatric case-identification, based on the Clinical Interview Schedule (CIS). Apart from marked differences in educational standards and proportions living alone the two samples were broadly similar in their recorded socio-demographic characteristics. Comparison revealed no significant difference in total prevalence, though there was a trend towards a higher case-frequency in Sao Paulo (29.7%) than in Mannheim (23.3%). The clinical-item profiles for the two samples indicated a higher rate of symptom reporting in Sao Paulo, whereas the Mannheim sample had higher mean scores for a number of psychiatric abnormalities observed at interview. Separate cluster analyses carried out on the two data sets divided the samples into four pairs of sub-groups with similar clinical profiles, which were designated respectively as ‘organic’, ‘depressive’, ‘neurotic’ and ‘normal’. While a more careful standardization of method would probably reduce the observed disparities between the samples, some of these are thought to be real and to relate to sociocultural differences, as well as to the greater stresses of daily life in Sao Paulo.

Eighty-nine protein-loading tests were performed in 80 patients with an increased blood phenylalanine concentration. The amount of protein corresponding to 0.18g phenylalanine/kg body weight per day was calculated and given for 3 days, during which time eight phenylalanine and eight tyrosine blood concentrations were determined. Nine numerical evaluations were checked for discrimination between phenylketonuria and hyperphenylalaninaemia. The two most powerful discriminants were the phenylalanine blood concentration after 72 hours (sample taken in the morning of the 4th day after the beginning of the load) with a limit value of 15 mg/dl (0.91 mmol/l), and the mean value of the 5th to 8th phenylalanine values, also with a limit value of 15 mg/dl. In only eight of the 80 patients would the final diagnosis not have been established by the loading test.

Es wurden 9 im Handel befindliche hochkalorische Kohlenhydratlösungen auf ihren Gehalt an Sulfit untersucht. Dabei ergab sich, daß 6 Infusionslösungshersteller ihren Lösungen Sulfit in unterschiedlichen Mengen zusetzen. Einen solchen Zusatz halten wir für unnötig und toxikologisch bedenklich. 9 commercially available high-calorie carbohydrate solutions were investigated for their sulfite content. It became evident that 6 manufacturers of infusion solutions add varying amounts of sulfite to their solutions. We consider such an addition to be unnecessary and risky from the toxicological point of view.

Eighty-nine protein-loading tests were performed in 80 patients with an increased blood phenylalanine concentration. The amount of protein corresponding to 0.18g phenylalanine/kg body weight per day was calculated and given for 3 days, during which time eight phenylalanine and eight tyrosine blood concentrations were determined. Nine numerical evaluations were checked for discrimination between phenylketonuria and hyperphenylalaninaemia. The two most powerful discriminants were the phenylalanine blood concentration after 72 hours (sample taken in the morning of the 4th day after the beginning of the load) with a limit value of 15 mg/dl (0.91 mmol/l), and the mean value of the 5th to 8th phenylalanine values, also with a limit value of 15 mg/dl. In only eight of the 80 patients would the final diagnosis not have been established by the loading test.

Caloric deprivation (feeding 50 and 25% of the original maintenance requirement for 126 days), followed by overnutrition (feeding 133 and 200% of the original maintenance requirement) for 37 days, were induced in 7 adult sheep. Before and after the periods of undernutrition and after overnutrition the animals were fasted (total energy withdrawal) for 5 days. Energy- and nitrogen-balances were determined and related to concentrations of thyroxine (total: T4; free: FT4), 3,5,3′-triiodothyronine (total: T3; free: FT3) and 3,3′,5′-triiodothyronine (reverse T3,rT3).Caloric deprivation led to decreased T3and FT3levels, overnutrition to increased T3and FT3concentrations. T3was significantly correlated with energy- and nitrogen-balances (r = 0.73 and 0.71, respectively; P< 0.001). T4and FT4behave similar to T3, but correlations between T4levels and energy- and nitrogen-balances were low. In contrast to T3, rT3levels increased during energy withdrawal and decreased during overnutrition. After an overnutrition for months, an additional fasting for 5 days did not increase rT3levels, however. rT3was significantly correlated with energy- and nitrogen-balances (r = −0.50 and −0.50, respectively; P< 0.01).

Extract: The phenylalanine hydroxylase assay was modified by using biopterin, lysolecithin, and dithioerythritol. Liver tissue was obtained by percutaneous needle biopsies in patients with phenylketonuria (PKU) and hyperphenylalaninemia. The use of the naturally occurring cofactor biopterin is essential to measure low enzyme activities. Thirteen of 14 assay specimens in which no activity was detectable correlated with the clinical picture of classic PKU. Twelve assay specimens showed a residual activity up to 6% of normal. This group comprises patients with classic PKU and with so-called hyperphenylalaninemia. Four specimens ranged between 8.7 and 34.5% of the normal values. Patients in this group have developed normally so far without dietary treatment. It seems that patients with residual activity tolerate more phenylalanine in the diet than patients with no detectable activity. One infant with biochemical symptoms of classic PKU was found to have a normal phenylalanine hydroxylase activity.Speculation: The variety of enzyme activities may reflect individual defects within the enzyme molecule. The clinical picture of PKU may not necessarily involve a defect of the phenylalanine hydroxylase in each case. The determination of the phenylalanine hydroxylase activity together with the biochemical parameters hitherto used might contribute to the differential diagnosis of PKU-hyper-phenylalaninemia.

Ziel der vorliegenden Studie war es, das Muster der Inanspruchnahme von Versorgungseinrichtungen (Krankenhäuser, Heime, ambulante Dienste) im Jahr vor dem Tode zu beschreiben. Die Ergebnisse stützen sich auf administrative Daten für alle älteren Einwohner der Stadt Mannheim, die im Verlauf eines Jahres verstarben (n=2507), sowie auf die Befragung der engsten Hinterbliebenen in einer 40%-Zufallsstichprobeder Verstorbenen (n=958). Die meisten Sterbefälle ereigneten sich in Krankenhäusern (49,7%), gefolgt von Sterbefällen außerhalb von Institutionen (29,1%) und in Alten- oder Pflegeheimen (21,2%). 79,6% der Verstorbenen nahmen im letzten Lebensjahr stationäre Behandlung in einem Krankenhaus in Anspruch, 28,6% waren in einem Heim untergebracht, und knapp 40% erhielten Versorgungsleistungen durch ambulante Dienste. Im Mittel wurden 9,3% des letzten Lebensjahres in einem Krankenhaus und 20,5% in einem Alten- oder Pflegeheim verbracht. Die Nutzung von Einrichtungen stand im Zusammenhang mit dem Sterbealter, mit der Familien- und Wohnsituation sowie mit dem Ausmaß des Hilfe- und Pflegebedarfs. Stationäre Klinikbehandlung und Pflegeleistungen verteilten sich gegensätzlich. Mit zunehmendem Sterbealter und beeinflußt von anderen altersassoziierten Faktoren stieg die Inanspruchnahme von Heimen und ambulanten Diensten steil an, während die Inanspruchnahme von Krankenhäusern sich mit wachsendem Alter verminderte. Ein substantieller Anteil der Ressourcen des Versorgungssystems entfällt offenbar auf die letzte Lebensphase. Bei steigender Lebenserwartung ist mit stärkeren Auswirkungen auf den Pflege- als auf den Krankenhaussektor zu rechnen. The aim of the present study was to describe the pattern of service use (hospitals, homes, ambulatory services) in the year before death. The results are based on administrative data for the elderly inhabitants of the city of Mannheim, who died during one year (n=2507), as well as on a survey of the next of kin of a 40% random sample of the decedents (n=958). Deaths occurred most frequently in hospitals (49.7%), followed by deaths outside of institutions (29.1%) and deaths in residential or nursing homes (21.2%). 79.6% of the deceased had been admitted to hospitals in the last year of their lives, 28.6% were cared for in homes, and almost 40% were receiving care from home-help services. 9.3% of the last year of life were spent on average in hospitals and 20.5% in residential or nursing homes. Utilization of care was influenced by age at death, family conditions, living arrangements, and level of dependency. Hospital and nursing care use showed an opposite pattern. With increasing age at death, the utilization of homes and ambulatory services rose steeply, whereas the probability of hospital treatment decreased with more advancing age. Obviously a substantial proportion of the resources of the care system is spent for care at the end of life. Future gains in life expectancy will probably have a greater impact on nursing care than on hospital care.

Summary In 40 rabbits (white New-Zealanders) studies were performed to evaluate whether the insufficiency of the adrenocortical system induced by dexamethasone may be prevented by simultaneous xylitol intake. Corticosterone and cortisol were determined in the serum by means of a double isotope method before and after the examination. Furthermore, the stimulation of the adrenal cortex byß-1-24 corticotrophin was tested. The sole intake of sorbitol or xylitol results in neither morphological nor functional disturbances of the adrenal cortex. The group having been given sorbitol and dexamethasone revealed a marked insufficiency of the adrenocortical system and partial adrenocortical atrophy. The group receiving xylitol and dexamethasone did not show any functional or morphological changes of the adrenal cortex. So, the conclusion may be drawn that the adrenocortical insufficiency induced by dexamethasone can be prevented by the simultaneous administration of xylitol in rabbits.

Effects of food restriction, followed by refeeding, on energy and nitrogen metabolism, growth rates and blood levels of hormones and metabolites were studied in steers. During the restriction period, which lasted for almost 5 mo, allowance for energy and nitrogen were close to maintenance requirements. Heat production and growth rates were markedly lowered. In response to reduced food intake concentrations of thyroxine (T4), 3,5,3′-triiodothyronine (T3), insulin (IRI), glucose and α-amino-acid nitrogen (AAN) were reduced, those of growth hormone (GH) and nonesterified fatty acids (NEFA) were elevated, whereas 3,3′,5′-triiodothyronine (rT3) and albumin were not different from levels measured in nonrestricted animals. During refeeding heat production and energy balances increased, nitrogen balances were transiently elevated and the animals exhibited compensatory growth. In response to refeeding, concentrations of T4, T3and IRI increased within days. In contrast, GH decreased whereas rT3did not change. Within 2 d of refeeding there was a rapid fall of NEFA, and an increase of glucose, and β-hydroxybutyrate within 2 and 12 d, respectively. The data demonstrate the ability of growing ruminants to adapt rapidly to variations in food intake by closely linked metabolic and endocrine changes, which are associated with shifts in energy and nitrogen metabolism and, finally, by reduced or compensatory growth.

Feed conversion ratio (FCR), which defines the feed requirement in kg per kg body weight gain, is an important measure for judging the economic and breeding performance of a fattening pig. It is dependent on many different factors which include (1) the level of feeding, which affects the maintenance requirements, (2) the energy value of the ration and (3) the energy concentration of the body weight gains (cg). The influence of these factors on FCRand, in general, on growth performance, is discussed using results from growth and balance experiments. Some inter-relationships between the factors are described and integrated into a model which predicts FCR.

Experiments with seven wether sheep, which were undernourished and then realimented, led to the following results: 1.(1) With a ration low in crude fibre (5.7% of OM), digestibility of energy increased with increasing feeding level.2.(2) Maintenance requirements were lower during undernutrition (275 kJ/kg34, 24 h) than during realimentation (374 kJ/kg34, 24 h).3.(3) Partial efficiency of metabolisable energy was similar in undernourished (km= 0.73) and realimented (kf= 0.75) animals and higher than that calculated by ARC (1965) for continuously fed animals (kf= 0.59).

1.Aminosäurechromatographie mit Urin von M. ergab eine massive Vermehrung von 12 Aminosäuren.2.Das Fleckenmuster der Aminoacidure wurde mit dem von weiteren 16 Fällen der gleichen Krankheit verglichen und von dem anderer Aminoacidurien abgegrenzt.3.Ein Plasmachromatogramm von einem Tage mit nur geringer Aminoacidurie ließ eine quantitave Beurteilung des Aminosäureplasmaspiegels nicht zu. Hingegen sprach der von Professor Krebs gewonnene, hundert Prozent erhöhte Glutaminsäurewert im Plasma für das Vorliegen einer metabolischen Aminoacidurie (“Aminosäurediabetes” Fanconis).4.Zuckerchromatographie erwies bei M. das Vorliegen einer Glykosurie. Diese Methode ist wesentlich sensitiver und spezifischer als die üblichen Reduktionsproben.

A child with so-called “tyrosinosis” was treated with a reduced phenylalanine and tyrosine intake (100 mg/kg/day) for two periods of 2 and 9 months each. Healing of rickets, normalization of phosphate in the serum and increased tubular reabsorption of phosphate occurred during treatment achieving normal tyrosine levels, whilst these parameters, worsened when the tyrosine in the palsma rose. Methioninemia disappeared and reappeared together with tyrosinemia during and after the first period of treatment (methionine intake was unchanged). Later on these symptoms were no longer correlated, and high levels of methionine were only found during a period of vomiting, loss of weight, failure to grow and normal blood tyrosine levels. Thus the delayed methionine degradation seems be influenced by age, rate of protein synthesis and tyrosinemia. Thrombocytopenia, disturbed liver functions and other symptoms also improved with advancing age or during the natural course of the disease and did not seem to be directly related to dietary treatment. By contrast, the degree of tyrosinemia remained unchanged, depending on the amount of phenylalanine and tyrosine in the food. Hypoglycemia and methioninemia were correlated, the difference in blood sugar between periods with and without methioninemia being statistically significant. Furthermore, there was no rise in the glucose level after glucagon injection when the methionine level was elevated, whilst the results of the glucagon tests were approximately normal at low methionine levels. These findings indicate that hypoglycemia and rickets are secondary symptoms, whereas the other abnormalities seem be more independent of the disturbed tyrosine metabolism.

Zusammenfassung Bei einem Stoffwechselgesunden führt intravenös verabfolgtes Acetazolamid (Diamox) in einer Dosierung von 5 mg/kg Körpergewicht zu einer Vermehrung der Aminosäuren-Ausscheidung (summarisch um 38%), indem die endogenen Aminosäure-Clearances für einige Aminosäuren erhöht werden.

RESPIRATION calorimetry is necessary to delineate completely energy utilization by animals. Laboratories in Germany and Denmark have reported results of extensive research on heat production and energy balance of growing pigs (Oslage and Fliegel, 1965; Thorbek, 1969) and of adult pigs (Nehring, Hoffmann and Schiemann, 1963). There have been, however, no studies specifically designed to evaluate the influence of crude fiber (CF) levels on overall energy utilization and heat production by market pigs. It is well established that CF depresses the digestibility of a diet. The source of CF may also be a factor in energy utilization as CF from different sources had different digestibilities (Troelsen and Bell, 1963). Lloyd and Crampton (1955) determined that one unit of CF was inversely equivalent to one unit crude protein (CP).The present study using respiration calorimetry was designed to obtain data on energy utilization and nitrogen balance of castrate male growing pigs from approximately 25 to 74 kg live weight when they were fed diets calculated to contain 3, 6, 9 or 12% CF.

Zusammenfassung Die Bilirubinencephalopathie des Frühgeborenen mit Kernikterus-Todesfällen oder cerebralen Dauerschäden läßt sich durch rechtzeitige Austauschtransfusion verhüten. Über den Zeitpunkt dieser Therapie gehen die Meinungen auseinander. Ein „kritischer“ Bilirubinspiegel im Blut etwa von 20 mg-% ist keine geeignete Indikation, da Kernikterus einerscits bereits bei Bilirubinkonzentrationen unter 15 mg-% auftreten kann, andercrscits bei über 30 mg-% manchmal vermißt wird. Der Bilirubinspiegel im Blut ist nur einer von mehreren Faktoren, die auf die Entstehung des Kernikterus Einfluß haben. Wir machen die Indikation zum Blutaustausch vorwiegend von den ersten klinischen Symptomen (s. u.) abhängig.

Zusammenfassung Es werden Methoden zur Dünnschichtchromatographie der Harnaminosäuren auf mikrokristalliner Cellulose angegeben.

Zusammenfassung 1. Die Aktivitäten von 28 Enzymen aus verschiedenen Abschnitten des Energiestoffwechsels wurden in isolierten Thrombocyten von 17 gesunden Menschen und 15 Patienten mit gesicherter Lebercirrhose gemessen.

Capillary blood samples from almost one million neonates from Baden-Württemberg were investigated for inborn errors of metabolism between 1969 and 1984 in our screening centre. Besides 7 patients with maple syrup urine disease (MSUD), 3 with homocystinuria and 18 with galactosaemia, a follow-up of the positive screening results confirmed 94 patients with phenylketonuria (PKU) and 76 with non-PKU hyperphenylalaninaemia (non-PKU HPA). The incidence of PKU is 1: 10 000, and that of HPA in the wider sense (PKU and non-PKU HPA) as obtained by newborn screening before further classification at 6 months 1: 5532.

Screening of neonates for inborn errors of metabolism has been carried out on a national level since 1969 in the Federal Republic of Germany. To raise the reliability of these routine investigations, we introduced an external quality control in March 1982. Every 2 months ten filter paper samples were sent to the screening centres in West Germany. Some of these samples have a normal and others a slightly raised content of phenylalanine, leucine, methionine and galactose. The success of this external quality control is appraised on the basis of the number of false negative results. In the course of time, screening centres in France, Israel, Italy, Japan, Switzerland, Taiwan, Turkey and Yugoslavia have also practicipated in these inter-laboratory quality controls.

In 20 patients with PAH deficiency, in vivo RA was determined by an intravenous deuterated Phe load. Sixteen patients had RAs of less than 0.4% of normal, 3a clearly detectable activity between 0.8 and 1.4% of normal. Long-term Phe tolerance as measured by the distribution of plasma Phe levels in categories (0–3.9, 4.0–9.9, 10–15.9 and over 16 mg/dl) was much improved in patients with RAs greater than 0.8%. There was a negative correlation between RA and number of plasma Phe levels >16 mg/dl. Relationship between full scale IQ at the age of 9 years and dietary control showed a positive correlation between IQ and the number of Phe levels between 0–10 mg/dl (k=.50p<0.05). Highest (negative) correlation (k=−0.67p<0.007) was found between full scale IQ and the number of Phe values >16 mg/dl as measured over 9 years. On the one hand detectable RA of PAH reduces the risk of high Phe levels and thus may also reduce the risk of brain damage in untreated or suboptimally treated patients with PAH. On the other hand enzyme measurement of PAH is no predictive parameter for Phe tolerance in an individual patient since RA may be very similar in phenylketonuric/hyperphenylalaninaemic patients. For practical purposes the oral protein loading test at the age of 6 months will give the most reliable results for differential diagnosis of PAH deficiency.

Abstract: The results ofin vivo determinations of phenylalanine-hydroxylating capacity using deuterated phenylalanine loads are compared with phenylalanine hydroxylase activity in liver biopsy samples and the results of oral protein challenge.

The results ofin vivodeterminations of phenylalanine-hydroxylating capacity using deuterated phenylalanine loads are compared with phenylalanine hydroxylase activity in liver biopsy samples and the results of oral protein challenge.