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PubMed1990

[Nutrition and metabolic diseases with a mass incidence].

Metabolic diseases with a mass incidence (simple obesity, arterial hypertension, hyperlipoproteinaemia, type II diabetes and gout) are the main risk factors for the manifestation of cardiovascular diseases which can be influenced, as has been reliably proved. They are at present the cause of 56% of all deaths in Czechoslovakia. It is important to emphasize that we are living and dying in an epidemic of cardiovascular diseases. The founder of morbid anatomy, Rudolf Virchow, stated more than 100 years ago: "If the prevalence of a certain disease in a population becomes epidemic, it reflects always a disorder of human culture". It is a fact that a great proportion of the population in Czechoslovakia has adopted during the past decades and still practices an unsound dietary regime and there are other negative lifestyle factors (obesity, smoking, little exercise, high alcohol consumption) for which we pay at present by a declining life expectancy, unnecessary human suffering and the nation as a whole by immense economic losses. The question arises: who and what prevents us from starting in Czechoslovakia as rapidly as possible expedient, comprehensively conceived prevention on a wide front, making use of all findings and advances of world science in this field?

Cardiovascular Diseases↗
PubMed1991

Increased prevalence of hereditary metabolic diseases among native Indians in Manitoba and northwestern Ontario.

OBJECTIVE: To compare the prevalence of hereditary metabolic diseases in the native and non-native populations of Manitoba and northwestern Ontario. DESIGN: Retrospective analysis. SETTING: Children's Hospital, Winnipeg. PATIENTS: Patients were selected by three methods: laboratory tests designed to screen patients suspected of having a metabolic disease, laboratory investigation of newborn infants with abnormalities detected through screening, and investigation of near relatives of probands with disease. RESULTS: A total of 138 patients with organic acid, amino acid and carbohydrate disorders were seen from 1960 to 1990. Of these, 49 (36%) were native Indians (Algonkian linguistic group). This was in sharp contrast to the proportion of native Indians in the total study population (5.8%). Congenital lactic acidosis due to pyruvate carboxylase deficiency (13 patients), glutaric aciduria type I (14 patients) and primary hyperoxaluria type II (8 patients) were the most common disorders detected. Other rare disorders included glutaric aciduria type II (one patient), 2-hydroxyglutaric aciduria (one patient) and sarcosinemia (one patient). Underreporting, especially of glutaric aciduria type I and hyperoxaluria type II, was likely in the native population. CONCLUSIONS: Hereditary metabolic diseases are greatly overrepresented in the native population of Manitoba and northwestern Ontario. We recommend that native children who present with illnesses involving disturbances of acid-base balance or with neurologic, renal or liver disease of unknown cause by investigated for a possible metabolic disorder.

Acidosis, Lactic↗
PubMed1992

[Autonomic dysfunction in metabolic diseases].

Among many metabolic disorders, porphyrias and Fabry disease are known to affect autonomic nervous system. In patients with acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria, autonomic symptoms such as abdominal pain, vomiting, hypertension and tachycardia are among the most prominent clinical manifestations. Fabry disease is clinically characterized by severe limb pain, hypohidrosis, angiokeratomas and various autonomic symptoms. In both porphyrias and Fabry disease, pathological changes in the central and peripheral autonomic nervous system have been documented. In porphyrias, a loss of myelinated fibers, axonal degeneration, and segmental demyelination in peripheral autonomic nerves as well as chromatolysis of several brain stem nuclei have been found. In Fabry disease, abnormal amount of the substrates of alpha-galactosidase, i.e. ceramide di- and trihexoside, are found to be accumulated in the central and peripheral autonomic nerves.

Autonomic Nervous System Diseases↗
PubMed2003

[Anthropometric methods in evaluation of somatic development of children with metabolic diseases].

Somatic development is determined by genetic and environmental factors. Morbidity, especially in chronic metabolic diseases, is considered as one of the environmental factors which significantly influences somatic development. Chronic diseases may affect growth by five mechanisms: nutritional factors, protein loss, chronic inflammation, tissue anoxia with acid-base disturbances and by drugs used in treatment. Somatic development assessment, especially longitudinal observations in chronic diseases, give important informations concerning the growth processes, factors affecting growth and treatment effectiveness. It also allows us to determine the moment of growth delay or catch-up growth. This paper discusses the importance and the interpretation of anthropometric measurements, which should be used in the assessment of somatic development, the dynamics of growth and the nutritional status of children with metabolic diseases.

Acid-Base Imbalance↗
PubMed2004

Reinterpretation of basal glucocorticoid feedback: implications to behavioral and metabolic disease.

A number of metabolic (e.g., abdominal obesity) and psychological (e.g., depression) pathologies commonly present together and have been associated with dysregulation in the hypothalamo-pituitary-adrenal (HPA) axis. Glucocorticoid hormones represent the final product of this classic neuroendocrine axis, and these steroids modulate neuroendocrine, metabolic, and behavioral function. A primary characteristic of the HPA axis is a negative feedback loop, and glucocorticoids act through the brain to inhibit drive to this neuroendocrine system. Slight and chronic perturbations in glucocorticoid levels, below or above normal, throughout the body lead to metabolic (e.g., abdominal obesity) and behavioral (e.g., depression) pathology. Appropriate feedback in the HPA axis is, therefore, critical, and determining how and where glucocorticoids act to impart their feedback effects have been the focus of many laboratories. However, the answer to these questions remain, in part, elusive. In this chapter, I review findings that have led me to reinterpret glucocorticoid feedback in the HPA axis. I propose that, under basal (nonstress) conditions, glucocorticoid feedback is a consequence of the metabolic actions of the adrenal steroid, not a direct effect on brain. This new perspective may provide insight into the etiology of diseases such as major depression and the metabolic syndrome X, and might explain the commonly observed coexistence of affective and metabolic disturbances.

Animals↗
PubMed1980

Inherited metabolic disease in laboratory animals: a review.

Research on the screening for and study of animal models of inherited metabolic disease is reviewed. It is emphasized that an animal model, to be of value, must be an inherited deficiency of the same enzyme as the one deficient in the human syndrome. If this criterion is adhered to there is a remarkable identity in aetiology between animal and man. Specific examples of inherited metabolic disease in laboratory animals are described for: amino acid metabolism; lysosomal storage diseases, carbohydrate metabolism, transport disorders and trace element metabolism; the mutants found in mice being the easiest to manipulate biochemically and genetically. There is still a lack of adequate screening programmes for animal homologues of the more serious human inborn errors (such as lysosomal storage diseases) where laboratory studies could provide significant advances in therapy.

Amino Acid Metabolism, Inborn Errors↗
PubMed1990

Cataract and metabolic disease.

In addition to the already recognized metabolic diseases which have been associated with cataract formation, e.g. galactosaemia, galactokinase deficiency, Lowe's syndrome and diabetes, several other disorders can also lead to the development of cataracts. They are sorbitol dehydrogenase deficiency, uridine diphosphate galactose-4-epimerase deficiency, marginal maternal transferase and galactokinase deficiency, galactitol and sorbitol accumulation of unknown origin, heterozygosity for galactosaemia and galactokinase deficiency as well as the carrier state for Lowe's syndrome. In this review these metabolic disorders have been divided into five groups according to the age at the first appearance of lens clouding and the possible means of treatment have been discussed.

Adult↗
PubMed1996

Lipid screening in an elderly population: difficulty in interpretation and in detection of occult metabolic disease.

AIMS: To determine lipid profiles and associations with other metabolic disease in a representative British elderly population. METHODS: Part of a prevalence survey of dementia in all 75+ year olds conducted from the large general practice serving the town and surrounding area of Melton Mowbray, Leicestershire (the M-old study). Patients (n = 224) aged from 75 to 98 years, and representative of the overall population, also provided pre-prandial blood samples on which various age and nutrition related analytes were determined. These included documented medical history, thyroid stimulating hormone (TSH), glucose, immunoglobulins, and lipid profile in plasma. RESULTS: Cholesterol and lipid variables showed wide scatter, with some negative trends but no significant associations with age for total cholesterol, high density lipoprotein (HDL) cholesterol, the ratio of total to HDL cholesterol or triglycerides. Women had significantly higher concentrations of total and HDL cholesterol at all ages. Serum TSH was above 6.0 mU/1 in 10/205 patients, random glucose was above 11.2 mmol/l in nine of 207 patients, borderline dysglobulinaemia was present in four of 210 patients, all without correlation with cholesterol concentrations. CONCLUSION: This British data is consistent with an inverse correlation between survival and cholesterol, but wide scatter restricts reliance on single result lipid data in individual patient management. Random lipid screening is also unhelpful, inefficient and without added value in revealing other age related and unrecognised occult metabolic disease.

Aged↗