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PubMed1980

[Early diagnosis of congenital metabolic diseases].

Diseases of metabolism may lead to irreversible organ damage before a typical pattern of clinical symptoms leads to diagnosis. Because of the possibility of treatment there is an urgent need for an early diagnosis to prevent any damage. Successful screening procedures, like the "Guthrie test" for phenylketonuria and TSH-screening for hypothyroidism are presented. Screening for Duchenne's progressive muscle dystrophy and for cystic fibrosis is discussed and evaluated. Attention is drawn to a screening for familial hypercholesterolemia, which might be important in the future.

Cystic Fibrosis↗
PubMed1996

Evaluation of fasts for investigating hypoglycaemia or suspected metabolic disease.

AIM: To assess the value and safety of fasts for investigating hypoglycaemia or suspected metabolic disease. STUDY DESIGN: Review of all diagnostic fasts performed over a 2.5 year period. SETTING: The neonatal intensive care unit and programmed investigation unit at a tertiary referral centre for endocrinology and metabolic disease. RESULTS: 138 diagnostic fasts were performed during the study period. Hypoglycaemia (< 2.6 mmol/l) occurred in 54 cases but in only four did the blood glucose concentration fall below 1.5 mmol/l. One patient became unwell as a result of a fast, but prompt treatment averted any sequelae. Specific endocrine or metabolic defects were identified in 30 cases, the most common being hyperinsulinism and beta-oxidation defects. CONCLUSIONS: Fasting is safe if conducted on an experienced unit with appropriate guidelines. It continues to provide useful information for diagnosis and management, particularly in cases of hyperinsulinism. Diagnoses should, however, be established by lower risk procedures whenever possible. Thus specimens for metabolic and endocrine studies should be obtained during the presenting episode and blood acylcarnitine species should be analysed prior to fasting.

3-Hydroxybutyric Acid↗
PubMed2006

Needs assessment and review of services for people with inherited metabolic disease in the United Kingdom.

Patients with inherited metabolic diseases need to be viewed as a specialist care group because of the range of expertise required for their diagnosis and management. In the UK, professional concerns have been expressed that existing services would struggle to meet needs resulting from new diagnostic and screening techniques, new treatments and increased survival. This needs assessment and service review was therefore undertaken at the request of the Joint Committee on Medical Genetics, guided by a national multidisciplinary stakeholder group. All 24 specialist centres identified in the UK provided evidence for the review. Approximately 10 000 patients are known to services and their annual number of referrals is increasing. Possible shortfalls in the number of patients attending specialist services were estimated for the UK as a whole by extrapolating the results from the region with the most comprehensive service and comparing this with known patient numbers. This analysis suggests that a further 5600 children and 3300 adults are not looked after by specialist services or have been lost to follow-up. The comprehensiveness of services was assessed using a new scoring system for clinical and organizational criteria. There are major regional disparities in the comprehensiveness of service provision across the country, with some regions having little or no specialist service. Unmet need will increase as a result of new diagnostic technologies, more effective treatments and new neonatal screening programmes; specialist services need to be developed and expanded to provide a comprehensive and more equitable service to the UK population.

Adult↗
PubMed1998

Implantable central venous access devices in children with metabolic disease.

We have inserted 20 totally implantable central venous devices in 17 patients with severe metabolic disease over a 43-month span. Patient ages ranged from 2 months to 17 years (mean, 4.2 years). The underlying pathology was Gaucher's disease in six patients, vitamin D-dependent rickets type II in five, propionic acidemia in two, and methylmalonic acidemia, 3-hydroxyl-3-methylglutaryl coenzyme A (CoA) lyase deficiency, fructose 1,6 diphosphatase deficiency, and urea cycle disorder in one child each. There were seven complications (six due to catheter-related infection and one due to occlusion of the system) during a total of 7,278 patient-catheter days. The infection rate was 0.8 per 1,000 days. Six catheters were removed due to complications and two due to completion of treatment. There were no operative complications or deaths. Our experience demonstrates that a totally implantable device may be useful in children with metabolic disease who need long-term venous access. Attention should be given to minimize the infection rate to reduce the rate of catheter removal.

Adolescent↗
PubMed1980

[B-complex vitamins an the prophylaxis of metabolic diseases (author's transl)].

The role of the vitamins of the B group in the therapy of metabolic diseases has been the theme of a recent symposium. All these vitamins exert essential functions in the balance of the intermediary metabolism and consequently in the treatment of their disorders. As far as metabolic diseases and the use of vitamins, i.e. of biological substances, are concerned, the boundaries between the fields of therapy and prophylaxis are difficult to settle strictly. The recent literature concerning these points is reviewed and some concepts discussed.

Acidosis↗
PubMed1987

[Ultrastructural study of conjunctival biopsies in metabolic diseases of the nervous system].

Forty conjunctival biopsies from children suffering from metabolic diseases of the CNS were studied ultrastructurally. In 20 cases they were abnormal (8 mucopolysaccharidosis, 6 GM1 gangliosidosis, 4 infantile neuroaxonal dystrophy, 1 GM2 gangliosidosis, 1 late infantile ceroid lipofuscinosis). In the 20 remaining cases the biopsies did not show abnormalities. From these, 2 were proven as Leigh disease and Hallervorden-Spatz disease in which there is no conjunctival ultrastructural alterations; in 2 cases (one metachromatic leukodystrophy and one adrenoleukodystrophy) the results were false negative); in 4 clinically suspected cases of late infantile ceroid lipofuscinosis no alterations were observed and the results were not conclusive. In the remaining 12 cases the negatives allowed to rule out lysosomal disorders. The ultrastructural study of the conjunctival biopsy is an important tool for the diagnosis of neurological metabolic diseases of children mainly when sophisticated biochemical procedures are not available.

Biopsy↗
PubMed2002

Inherited metabolic diseases of the liver.

Many inherited metabolic diseases affect the liver in neonates, children, or adults. The histopathologic changes are diverse and may be acute or chronic. They can be considered primary (when the injury is from the cytopathic effect of an accumulated metabolite) or secondary (e.g., an infection caused by an immune deficiency). All forms of liver disease are described: for example, intrahepatic cholestasis, neonatal hepatitis with giant-cell transformation, paucity of bile ducts, steatosis, steatohepatitis, necroinflammatory diseases (acute or chronic), fibrosis, cirrhosis, and neoplasms (benign or malignant). Familiarity with the morphologic changes is important in clinicopathologic correlation, diagnosis, and understanding of pathogenetic mechanisms.

Cholestasis, Intrahepatic↗
PubMed2004

Down-regulation of adipose 11beta-hydroxysteroid dehydrogenase type 1 by high-fat feeding in mice: a potential adaptive mechanism counteracting metabolic disease.

The enzyme 11beta-hydroxysteroid dehydrogenase type 1 (11beta-HSD-1) amplifies intracellular glucocorticoid action in vivo. 11beta-HSD-1 activity is increased in adipose tissues of obese humans and genetically obese rodents, providing a mechanistic basis for the similarities between metabolic disease arising from high circulating glucocorticoids (Cushing's syndrome) and idiopathic obesity/metabolic syndrome where plasma glucocorticoids are typically unaltered. Fat-specific overexpression of 11beta-HSD-1 produces a metabolic syndrome in mice, whereas 11beta-HSD-1 null mice resist high-fat diet (HF)-induced visceral obesity and its metabolic consequences. Here we compared the effects of chronic (18 wk) HF feeding on adipose 11beta-HSD-1 activity in strains of mice that are either resistant (A/J) or prone (C57BL/6J) to metabolic disease. 11beta-HSD-1 activity was highest in sc fat, followed by epididymal fat, with lowest activity in the mesenteric visceral depot of both strains. 11beta-HSD-1 activity was lower in white adipose tissues of A/J compared with C57BL/6J mice. Chronic HF feeding unexpectedly caused a down-regulation of 11beta-HSD-1 in adipose tissues of both strains, despite comparable adiposity. However, A/J mice down-regulated adipose 11beta-HSD-1 to a significantly lower level than C57BL/6J mice in white and thermogenic brown adipose tissues. We propose that a lower adipose 11beta-HSD-1 set point affords a metabolic protection to A/J mice. Adaptive down-regulation of adipose 11beta-HSD-1 in response to chronic HF represents a novel mechanism that may counteract metabolic disease.

11-beta-Hydroxysteroid Dehydrogenase Type 1↗
PubMed1969

Ocular findings in several metabolic diseases.

Changes in ocular findings have been noted in association with several metabolic diseases. In homocystinuria the crystalline lens in the majority of cases is subluxated inferiorly, while in Marfan's syndrome the dislocation was upward. In cystinosis, slit-lamp examination reveals numerous gold crystal-like cystine deposits in both the cornea and bulbar conjunctiva. Patients with galactosemia have cataracts of the "oil drop" type, which usually can be seen with an ophthalmoscope even though the opacity is not dense. Eight patients with Lowe's syndrome who were observed had cataracts, and four of them had severe glaucoma. Three of five patients with glycogen storage disease Type I had yellowish deposits in the macular and paramacular areas, thought to be due to hypercholesterolemia.

Cystinosis↗
PubMed2001

Overview of common inherited metabolic diseases in a Southern Chinese population of Hong Kong.

BACKGROUND: The Joint metabolic clinic at the Prince of Wales Hospital was established in January 1997 to provide a comprehensive multi-disciplinary care to patients with inherited metabolic diseases (IMDs). Patients are referred from both within and outside our hospital. Until July, 2000, more than 40 patients and families with 20 different biochemical diagnoses attend the clinic for regular follow up. A pattern of more common IMDs among Hong Kong Chinese emerged from our case registry. In order to advance the understanding of Chinese metabolic diseases, we examined the molecular basis of those diseases with unique features in Chinese or were locally prevalent. Mutations were found in patients with primary carnitine deficiency, ornithine transcarbamylase deficiency, X-linked adrenoleukodystrophy, glutaric aciduria type I, and galactosemia. We also analyzed the mutations in multiple carboxylase deficiency and Niemann-pick type C on four families. CONCLUSIONS: Although IMDs are a significant cause of mortality and morbidity among pediatric patients, with a better understanding of the molecular genetics of these diseases, prenatal diagnosis of these common IMDs will be facilitated, which is currently the most effective way of controlling IMDs.

Fatty Acids↗
PubMed2001

Peroxisome proliferator-activated receptor gamma and metabolic disease.

The nuclear peroxisome proliferator-activated receptor gamma (PPAR gamma) is a transcription factor that is activated by polyunsaturated fatty acids and their metabolites and is essential for fat cell formation. Although obesity is a strong risk factor for type 2 diabetes mellitus and other metabolic diseases, potent PPAR gamma activators such as the glitazone drugs lower glucose and lipid levels in patients with type 2 diabetes and also have antiatherosclerotic and antihypertensive effects. We review recent studies providing insight into the paradoxical relationship between PPAR gamma and metabolic disease. We also review recent advances in understanding the structural basis for PPAR gamma activation by ligands. The unusual ligand-binding properties of PPAR gamma suggest that it will be possible to discover new chemical classes of receptor "modulators" with distinct pharmacological activities for the treatment of type 2 diabetes and other metabolic diseases.

Adipocytes↗
PubMed1998

Who gets missed: coverage in a provincial newborn screening program for metabolic disease.

OBJECTIVE: To determine coverage of the newborn screening program (NSP) for metabolic disease in Alberta, Canada, and to determine reasons for not being screened. STUDY DESIGN: Coverage was estimated by deterministic matching of live birth registration data with newborn screening data for the year 1992. Demographic characteristics of not-matched infants were compared with good-match infants using logistic regression. RESULTS: For 42 392 live births, there were 41 553 screening records, of which 40 593 infants were very good matches to NSP records. Another 960 were possible matches. A total of 839 infants were not matched at all, and coverage was estimated at 98.0%. Determinants of infant not-matched status were death in week 1 (adjusted odds ratio [OR]: 383); birth weight of <1500 g (adjusted OR: 18.9) or between 1500 and 2500 g (adjusted OR: 3.2); having a mother who was single (adjusted OR: 2.7) or formerly married (adjusted OR: 12.9); or being born out of hospital (OR: 19. 2). The calculated 98% coverage is close to an estimate of 98.3% made by the NSP comparing total births with initial screenings. CONCLUSION: The matched data give insight as to who was missed and point to the need for closer attention for infants at greater risk of not being screened for metabolic disease.

Alberta↗
PubMed2005

Molecular mechanisms of organelle biogenesis and related metabolic diseases.

Organelle biogenesis is regulated by transcriptional networks that modulate expression of specific genes encoding organellar proteins. Structural and functional specificity of organelles requires not only the transcription of specific genes and translation of resulting mRNAs, but also the transfer of encoded polypeptides to their site of function through signaling peptides. A defect in targeting of proteins to their subcellular site of function may not necessarily prevent biogenesis of the organelle, but would definitely lead to formation of a defective organelle with respect to that specific function. Several metabolic diseases are associated with dysfunction or defects in organelle biogenesis; among these, peroxisome biogenesis disorders, mitochondrial biogenesis defects and lysosomal storage disorders are an extensively studied group of genetic diseases where biogenesis of the organelle is compromised either due to a defect in assembly of the organelle itself or impaired import of matrix proteins into the organelle. Recent advances in biochemical and molecular aspects of biogenesis of subcellular organelles have not only unraveled the mechanisms for organization of cellular networks, but have also provided new insights into the development of metabolic diseases that are caused by disruption of organelle biogenesis. This article reviews the molecular mechanisms of biogenesis of mitochondria, lysosomes and peroxisomes in relation to the metabolic diseases of genetic or nongenetic origin.

Gene Expression Regulation↗
PubMedDate not supplied

Immunology and immunogenetics in metabolic diseases.

The first part of the work reviews some general data regarding the HLA system and emphasizes the principal implications of this system in diabetes mellitus and other metabolic diseases. Part two discusses pathoimmunological mechanisms in metabolic pathology (on the one hand those linked to autoimmunity, on the other those linked to immunologic deficiency of enzymatic origin). Finally, some immunologic aspects in the treatment of metabolic diseases are outlined.

Antibody Formation↗
PubMed1989

[Clinical molecular-genetics for endocrine and metabolic diseases].

Recently developed methods for the DNA-based diagnosis of endocrine and metabolic diseases, particularly genetic diseases, were reviewed. The molecular-diagnostic methods for a base substitution include the direct sequencing of a mutant gene, detection of a newly made RFLP site, the oligonucleotide method, the segregation analysis with RFLPs based on the linkage between and RFLP-allele and a disease locus, and the DNA/RNA mismatch method. Several examples of families with genetic diseases in which the diagnosis was successfully made are presented. Another gene mutation is a gene deletion. To detect such a deletion, the Southern hybridization method is useful. Several families with a disease, especially those with Duchenne muscular dystrophy, in which the diagnosis with deletion study was successful are presented. Finally, the method of prenatal diagnosis with the DNA technique was reviewed.

Blotting, Southern↗