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PubMed2003

Metabolic Diseases Drug Discovery World Summit.

This year's Metabolic Diseases Drug Discovery World Summit, consisting of a gathering of mostly researchers from pharmaceutical and biotech industry, was held in picturesque San Diego. The diverse programme covered recent advances in drug discovery and development for the treatment of type II diabetes, metabolic syndrome and obesity. The ranges of topics included basic physiology, therapeutic target identification/validation, lead development/optimisation, profiling of development candidates and update on clinical trials. This report will attempt to highlight some of the important developments presented at this symposium.

Animals↗
PubMed2000

[Information and retrieval diagnostic system for inherited metabolic diseases].

The paper analyzes a procedure for construction and practical use of an information and retrieval diagnostic system (IRDS) for inherited metabolic diseases (IMD) in the context of an automatic working place for consulting genetics. An IRDS structure for IMD is proposed, which involves the following functional elements: 1) a genetic register; 2) an inherited metabolic disease database (IMDD); 3) a special module for searching for the probable range of diagnoses; 4) an archive; 5) a special model for statistical analysis of the clinical polymorphism of IMD. The full insight into each nosological entity (n = 316) as part of IMD IRDS is gained by using a set of catalogues, such as a catalogue IMD classes (n = 22), that of IMD clinical symptoms and signs (n = 1215); that of IMD biochemical markers (n = 934); a list of all symptoms and signs for each nosological entity; that of major diagnostic signs for each nosological entity. The clinical picture is described within the framework of the unified structure that includes the following set of items: the textual description of the clinical picture of a disease in terms of major diagnostic signs, etiology, genetics, pathogenesis, a biochemical phenotype, paraclinical studies, differential diagnosis, treatment, and prevention. The system is provided with a simple and user-friendly interface that allows a user to have a prompt look at the data pertaining to each nosological entity, to find required references by employing multiple keys of data search, sort, and printing.

Diagnosis, Computer-Assisted↗
PubMed1990

[Metabolic diseases: a challenge for pediatrics].

During the past ten years we have identified in five girls a previously unreported hereditary metabolic disease with severe neurologic involvement. A common defect in the carbohydrate structure of serum glycoproteins could be demonstrated. This disease illustrates the great challenge that metabolic diseases are for pediatrics. Their number is very large and increases steadily; most of them can not yet be treated efficiently, and nearly all these disorders are hereditary. These and other features make a national and international approach necessary.

Blood Protein Disorders↗
PubMed2002

Pathways from weight fluctuations to metabolic diseases: focus on maladaptive thermogenesis during catch-up fat.

It has long been known that obesity is a high risk factor for cardiovascular diseases. In more recent years, the analysis of several large epidemiological databases has also revealed that, independently of excess weight, large fluctuations in body weight at some point earlier in life represent an independent risk factor for type 2 diabetes and hypertension-two major contributors to cardiovascular diseases. High cardiovascular morbidity and mortality have indeed been reported in men and women who in young adulthood experienced weight fluctuations (involving the recovery of body weight after weight loss due to disease, famine or voluntary slimming), or when weight fluctuations occurred much earlier in life and involved catch-up growth after fetal or neonatal growth retardation. This paper addresses the pathways from weight fluctuations to chronic metabolic diseases by focusing on the phenomenon of accelerated fat recovery (ie catch-up fat) after weight loss or growth retardation. Arguments are put forward that, during catch-up growth or weight recovery on our modern refined foods, the mechanisms of adaptive thermogenesis that regulate catch-up fat are pushed beyond the limits for which they were meant to operate and turn maladaptive. The consequences are enhanced susceptibilities towards skeletal muscle insulin resistance and overactive sympathetic activity, both of which are major contributors to the pathogenesis of chronic metabolic diseases. Since weight fluctuation earlier in life (independently of excess weight later in life) is an independent risk factor for metabolic diseases, the mechanisms by which body fat is acquired would seem to be at least as important as the consequences of excess fat per se in the pathogenesis of diabetes, hypertension and cardiovascular diseases.

Adipose Tissue↗
PubMed1987

First trimester prenatal diagnosis of metabolic diseases: a survey in countries from the European community.

This paper presents the collected data concerning First Trimester Prenatal Diagnosis of Metabolic Diseases performed in different countries of the European Community by enzymatic methods using chorionic villi. In all, 258 diagnoses were made for 38 different metabolic diseases and 56 (22 per cent) affected fetuses have been detected. Several difficulties were encountered with regard to chorionic villus material or enzyme expression in this tissue. We stress the conditions necessary for avoiding errors in diagnosis.

Cells, Cultured↗
PubMed1989

Laboratory detection of metabolic disease.

This article describes the clinical signs, abnormal chemistry, histopathology, and biochemical tests that assist in the diagnosis of many inherited metabolic diseases. Small molecule diseases (for example, amino acid disorders, organic acidurias, and galactosemia) may present with acute illness and lead to unexplained death. Diagnosis of the specific enzyme defect may permit treatment by dietary changes or vitamin supplementation. Large molecule diseases are degenerative disorders due to storage of glycogen, glycoproteins, or mucopolysaccharides. Table 7 presents a compendium of laboratory investigations one should consider using when abnormalities are found in multiple organ systems. The investigation of a child with a mucopolysaccharidosis is used as an example of the use of this table. Investigating pediatricians should realize that many laboratory tests involved in the diagnosis of metabolic disease required special collection and handling by the laboratory.

Amino Acid Metabolism, Inborn Errors↗
PubMed2003

Non-alcoholic fatty liver syndrome: a hepatic consequence of common metabolic diseases.

BACKGROUND AND AIMS: The association of liver steatosis with a number of common metabolic conditions has been suggested. The aim of the present study was to evaluate the clinical features of subjects with different severities of steatosis. METHODS: The present study was performed in 282 consecutive patients with 'bright liver' at ultrasonography and in 58 subjects without steatosis. They had no history of alcohol abuse and negative tests for the presence of hepatitis B and C virus. Patients underwent clinical examination, anthropometry, laboratory tests and routine liver ultrasonography. Steatosis was graded as absent, mild, moderate and severe. RESULTS: A progressive increase in the prevalence of obesity (P < 0.001), type 2 diabetes (P < 0.001), alanine aminotransferase (ALT) elevation (P < 0.001) and hypertriglyceridemia (P < 0.001), and a decrease of hypercholesterolemia (P < 0.05) was observed from the control group to the groups with mild, moderate and severe steatosis. More than half the subjects with liver steatosis had insulin resistance metabolic syndrome. Obesity, diabetes and hypertriglyceridemia were more common by 5.3-fold, 4.0-fold, and 6.7-fold, respectively, in subjects with severe steatosis, as compared to controls. Prevalence of obesity, diabetes and hyperlipidemia was significantly higher in subjects with fatty liver and ALT elevation. CONCLUSION: Fatty liver can be considered as the hepatic consequence of common metabolic diseases.

Alanine Transaminase↗
PubMed1989

A clinical biochemist's view of the investigation of suspected inherited metabolic disease.

The necessity for a multi-disciplinary approach to the study of genetic disease is discussed. The progress of laboratory investigation programmes made it not feasible and inefficient to run a full metabolic investigation programme in every new patient suspected of inherited metabolic disease. An application form for metabolic investigation is described, which can be used to collect clinical information relevant to metabolic disease. On the basis of the patient's clinical information, selection criteria are given to decide which laboratory investigation programme has to be performed in the individual patient. A full metabolic laboratory investigation programme is described and illustrated with some examples of abnormal metabolite patterns. Diagnostic results over a 2-year period are presented.

Chromatography↗
PubMed1995

Response to treatment in hereditary metabolic disease: 1993 survey and 10-year comparison.

Knowledge about cause, pathogenesis, and manifestations of hereditary metabolic diseases puts them among the best known of all human diseases. On the other hand, outcomes of treatment are cause for uncertainty and concern. In 1985, Hayes et al. analyzed efficacy of treatment up to 1983 in 65 of these diseases selected randomly from the McKusick catalogs. Disease scores were calculated for seven parameters: longevity; reproductive capability; somatic and cognitive development; and handicaps affecting schooling, work, and cosmetic appearance. Scores of the untreated and treated phenotypes were then compared. We have now measured progress over the past decade by calculating scores on the same 65 diseases from data in several hundred new reports published since 1983. All seven parameters in the 1993 survey reflect improved efficacy of treatment in the 10-year interval. However, the percent of diseases for which all manifestations of the disease were removed by treatment has not changed (12% in 1983; 12% in 1993). The group in which manifestations were untouched by treatment has become smaller (48% in 1983; 31% in 1993), and the group partially ameliorated by treatment had increased reciprocally (40% in 1983; 57% in 1993). Progress in the treatment of hereditary metabolic disease is thus better than it was, but it is still only a partial success. The advances are attributable to greater success with organ and tissue transplantation, better pharmacotherapy, and better support systems. Restoration of normal homeostasis, the key to successful treatment, remains an elusive challenge and is a logical, major focus for research in human genetics.

Data Collection↗
PubMed1982

Neonatal urine screening for metabolic disease with auxotrophic strains of Bacillus subtilis.

A simplified method for neonatal urine screening for metabolic diseases is described. This procedure involves the use of two bacterial inhibition assays which can detect uracil, lysine, and homocystine, in combination with two other assays utilizing spores of amino acid auxotrophic mutants of Bacillus subtilis which can detect several amino acids and purines. These four tests have the capability to detect several treatable inherited metabolic diseases, including three disorders of the urea cycle, using a urine specimen on filter paper. This method results in savings of cost and time over chromatographic screening procedures, since only four agar trays (56 specimens per tray) are used, which can be processed with one cycle through a semi-automated punch index machine.

Bacillus subtilis↗
PubMed1982

Screening for metabolic disease in a metropolitan hospital.

Screening for metabolic diseases at Children's Hospital of Michigan, Detroit during 1978 and 1979 led to the discovery of 7.5 cases per year, representing a marked increase over previous years. Five cases of organic aciduria were identified during this two-year period by use of urinary gas chromatography. Four of these were found to have methylmalonic aciduria. The increase in detection rate was due to the addition of an organic acid screening technique and greater use of two standard screening tests. The yield of screening by these two tests also improved, which we attribute to the better use of specific criteria. Inclusion of a simple urine screening test for methylmalonic acid is recommended in the workup of infants with episodic vomiting, lethargy, acidosis, or catastrophic illness.

Amino Acid Metabolism, Inborn Errors↗
PubMedDate not supplied

Incidence of some metabolic diseases in dairy cows.

The incidence of parturient paresis, nonparturient paresis, ketosis and tetany were examined from 283 herds (2,590 cows per year) over a period of eight years. These metabolic diseases made up 29.4% of the cases treated by veterinarians during the farm visits. Significant variation in annual incidences was found only in ketosis. The monthly variation in parturient paresis and ketosis differed highly significantly from the seasonal variation in calving. They were most frequent in March-April. Most of the tetany cases were diagnosed in May-June. The incidence of parturient paresis (0.095 cases per cow per year) and the incidence of ketosis (0.058) varied significantly between herds of different size. The incidence of nonparturient paresis (0.008) and tetany (0.002) did not vary significantly between herds of different size. The incidence of ketosis was significantly higher on farms with milk recording than on other farms. The type of cowshed did not affect the incidence of metabolic disease.

Animals↗
PubMed1998

Variables influencing parental perception of inherited metabolic diseases before and after genetic counselling.

The present study was undertaken to characterize the variables that influence parental perception of metabolic disorders and their genetic origin before and after genetic counselling, the effect of counselling on parental attitudes towards prenatal diagnosis and pregnancy termination, and the factors affecting parental coping with burden. Parents of children with metabolic diseases from 32 Arab-Muslim families were interviewed, answering a pre-structured questionnaire. These interviews indicate the following. (1) Traditional belief and religious commitment are more important determinants than education in parental perception of inherited metabolic diseases. (2) The number of affected children has a greater impact on parental evaluation of the burden than the number of healthy children. The social component, i.e. the way families are viewed by society, is the most significant factor of the burden. (3) Parents use different techniques to divide responsibility regarding reproduction. Having a healthy child and the availability of prenatal diagnosis and pregnancy termination were the two most important factors in parental reproductive decision making. In the absence of a healthy child and when the burden was perceived as too heavy, parents tended 'not to decide'. (4) Parental attitude to pregnancy termination was dependent on two factors: religious commitment (leading to objection) and severity of disease (leading to flexibility and approval). (5) In almost all families, genetic counselling altered parental perception of the disease and its hereditary origin. We conclude that genetic counselling and population education may be helpful in the prevention of consanguineous marriages and in family planning, even in a society that values traditional beliefs very highly.

Abortion, Induced↗