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PubMed2003

[Application of gas chromatography-mass spectrometry analysis on urine filter paper in the high-risk screening and diagnosis of inherited metabolic diseases].

OBJECTIVE: To establish a specific procedure for the high-risk screening and diagnosis of organic acidurias and other inherited metabolic diseases in China. METHODS: A nation-wide network for the high-risk screening and diagnosis of genetic metabolic diseases was formed to facilitate the collaboration. Urine samples were collected using filter paper from patients with clinical symptoms suspicious of inherited metabolic diseases. The samples were eluted with distilled water and internal standards were added. Samples were treated with hydroxylamine hydrochloride to form oximes to improve the recoveries of 2-ketoacids. Urinary organic acids were extracted with ethyl acetate and diethyl ether under acidic condition. After dehydration, the combined organic phase was evaporated to dryness with nitrogen. The residues were added with BSTFA + 1%TMCS and heat incubated to form the trimethylsilyl derivatives, and then were analyzed on an Agilent 5890/5973N gas chromatography-mass spectrometer (GC-MS), with a 7683 series auto-sampler. The peaks were identified by reference to a mass spectral library. RESULTS: Totally 352 samples were collected from the network collaborating hospitals since 2001. Thirty-four (9.66%) cases of various inherited metabolic diseases were diagnosed with an age range of 2 days to 14 years. The disease profile was consisted of methylmalonic acidemias (6), alpha-keto-glutaric aciduria (5), tyrosinemia type I (4), dicarboxylic aciduria (4), multiple carboxylase deficiency (3), phenylketonuria (3), lactic acidemia (3), propionic acidemia (2), ornithine transcarbamoylase deficiency (1), ethylmalonic-adipic aciduria (1), glutaric aciduria type II (1) and 3-methylcrotyl CoA carboxylase deficiency (1). The most common clinical symptoms and signs included mental and developmental retardation, convulsion, musculotonic abnormality and jaundice. Routine laboratory tests often revealed metabolic acidosis, hypoglycemia and hyperammonemia, etc. CONCLUSION: Urine organic acids analysis by GC-MS remains to be the most important technique for the high-risk screening and diagnosis of inherited metabolic diseases. Use of urine filter paper for sample collection and analysis in advanced genetic metabolic centers is a practical approach to extend the diagnostic capacity and improve the management of such diseases in China. Collaborative network played a critical role in the success of the program.

Adolescent↗
PubMed2006

Vital capacity and selected metabolic diseases in middle-aged Japanese men.

OBJECTIVE: To elucidate the association between vital capacity and the presence of selected metabolic diseases in middle-aged Japanese men. METHODS: A cross-sectional analysis of the associations among forced vital capacity (FVC), static vital capacity as a percentage of that predicted (%VC) and the presence of metabolic diseases was performed. RESULTS: In a univariate linear regression analysis, FVC and %VC were inversely associated with poor vegetable intake, cigarette smoking and body mass index, but not with physical activity or ethanol consumption. In a logistic regression analysis adjusted for lifestyle factors, body mass index and age, the odds ratios for the presence of metabolic disease per 0.54 L (1 SD) decrease in FVC were 1.24 (95% CI 1.03 to 1.50) for type II diabetes, 1.21 (95% CI 1.02 to 1.42) for hypertension, 1.34 (95% CI 1.11 to 1.63) for hypertriglyceridemia, 1.23 (95% CI 1.03 to 1.46) for high gamma-glutamyl transferase levels and 1.63 (95% CI 1.10 to 2.41) for an episode of cardiovascular disease. FVC did not correlate with hyperhomocysteinemia, hypercholesterolemia or high white blood cell count. Similar results were also obtained for the association between %VC and metabolic diseases. CONCLUSIONS: A decrease in FVC or %VC was associated with the presence of some metabolic diseases. The association may partly explain the reported association between low FVC and cardiovascular disease.

Alcohol Drinking↗
PubMed2002

Pediatric liver transplantation in metabolic disease: clinical decision making.

Proper utilization of liver transplantation in the management of pediatric metabolic diseases requires a comprehensive understanding of both metabolic disease and the risk and benefits of transplantation. This brief review focuses on issues that pertain to the treatment of tyrosinemia type I, bile acid biosynthesis disorders, primary hyperoxaluria, Crigler-Najjar Type I, and mitochondrial diseases. These entities are used as prototypes to illustrate many of the principles that are applied in a more general sense to the management of metabolic diseases. The natural history of these disorders are considered in the context of the risks of liver transplantation. Indications, contraindications, and both current and future alternatives to transplantation, are considered.

Child↗
PubMed1986

[Contribution of electron microscopy of cultures of fibroblasts in the diagnosis of hereditary metabolic diseases].

This work is an electron microscopic study of fibroblast culture of patients with metabolic diseases. In all cases, except for Niemann-Pick disease, primary lysosomes or secondary lysosomes containing lamellar, rectilinear or curvilinear material are accumulated in cytoplasm of fibroblasts. Though clinical consequences of metabolic diseases are diverse, cellular injuries are relatively uniform. Then electron microscopic study would'nt allow the diagnostic of a metabolic disease but it can provide an orientation. In one case, the enzymatic defect is not determined with biochemical analyses though clinical observation is characteristic of a metabolic disease; only the electron microscopic study shows a lysosomal accumulation.

Adolescent↗
PubMed2006

Cognitive functioning and psychiatric disorders in children with a metabolic disease.

OBJECTIVE: To report on the intelligence scores and the psychiatric pathology of distinct groups of children with metabolic diseases. METHODS: The study population consists of 53 children between 0 and 18 years of age. Diagnostic assessment included a semi-structured interview, self-report questionnaires and a standard intelligence test. RESULTS: In 40% of the children older than 5 years, a child psychiatric diagnosis was made. While CBCL total and internalizing scores did not differ between metabolic disease groups, the CBCL externalizing scores for some groups did. Two fifths of the children showed a below normal intelligence, while a performal-verbal IQ discrepancy was found in half of the children. Of the school aged children almost one third attended a special needs school. CONCLUSION: In spite of the small sample size, the results suggest substantial psychiatric problems in children with a metabolic disease. Further study on larger groups is warranted, which should enable further comparison of patients affected by specific metabolic diseases.

Adolescent↗
PubMed1992

Imaging of metabolic diseases of the brain.

Increasing interest in metabolic diseases of the brain has revealed more specific patterns of disease, permitting us to make more accurate diagnoses or to suggest a more limited differential list of considerations. MR imaging is also useful in monitoring the course of the disease in processes for which treatment is available.

Brain↗
PubMed1993

Prenatal diagnosis of inherited metabolic diseases.

Advances in the prenatal diagnosis of inherited metabolic disease have provided new reproductive options to at-risk couples. These advances have occurred in both sampling techniques and methods of analysis. In this review we present an overview of the currently available prenatal diagnostic approaches for the diagnosis of metabolic disease in a fetus.

Female↗
PubMed2004

Thyroid hormone ligands and metabolic diseases.

Thyroid hormones regulate fundamental genes involved in the metabolism, development and homeostasis of vertebrates. The endogenous hormones, L-3, 5, 3'-triiodo-L-thyronine (T(3)) and L-3, 5, 3', 5'-tetraiodo-L-thyronine (T(4)), are of limited use in pharmacological intervention, mainly due to cardiovascular liabilities. There exist two subtypes of thyroid hormone receptors (TR), alpha and beta, unequally distributed in the body. As TRalpha is most abundant in the heart and most effects of thyroid hormones on the heart are mediated through TRalpha, a reasonable strategy is the development of TR agonists that either are tissue selective or that interact selectively with TRbeta. The prospects for the treatment of metabolic diseases with such ligands are considerable and this review describes the massive efforts of the academic and industrial communities during the last decade. It is, however, the author's view that the development of selective ligands only is in its infancy, an opinion highlighted by the limited chemical structural variation of TR ligands as well as the present lack of TR ligands for the treatment of metabolic diseases in clinical phases.

Animals↗
PubMed2025

Novel approaches and applications in identifying DNA methylation markers of cardio-kidney-metabolic disease.

Cardio-kidney-metabolic (CKM) diseases represent a major public health challenge, accounting for a large proportion of global burden of morbidity and mortality. These conditions share risk factors, including genetic predisposition, environmental exposures, and lifestyle influences, which collectively drive disease development and progression. Epigenetic modifications, particularly DNA methylation (DNAm), serve as key mediators and biomarkers between these risk factors and disease phenotypes by regulating gene expression without altering the DNA sequence. Epigenome-wide association studies have identified DNAm markers associated with CKM diseases and related phenotypes, highlighting both shared pathways and disease-specific epigenetic signatures in inflammation, metabolic dysfunction, and aging-related processes. Longitudinal studies further demonstrate the dynamic nature of DNAm changes over time, offering insights into disease trajectories. Additionally, methylation risk scores integrating multiple epigenetic markers show promise in improving disease prediction and risk stratification beyond traditional clinical factors. To synthesize the current evidence, we conducted a targeted literature search in PubMed for English-language, peer-reviewed articles published between 2014 and the present. Future research leveraging large, well-phenotyped cohorts, advanced statistical methods, and innovative study designs will be critical for uncovering novel biomarkers, refining risk prediction models, and developing targeted epigenetic therapies to mitigate the global burden.

Humans↗
PubMed1991

First trimester diagnosis of inherited metabolic disease: experience in the UK.

Experience with first trimester diagnosis of inherited metabolic disease is still limited. In this report, data are collected from four major centres in the UK which provide a prenatal diagnosis service based on specific enzyme or gene product assay. The data were presented at a workshop on 'First Trimester Diagnosis of Inherited Metabolic Disease' held at the Institute of Child Health, London, on 21st June 1990. Approximately 100 different metabolic diseases can now be diagnosed in the first trimester, but because of the rarity of many of the disorders, experience of positive diagnoses, based on enzyme deficiency in fresh chorionic villus samples (CVS), cultured villus cells or early amniocentesis samples, is likely to be limited. It is, however, important that these results are reported and similarly that any problems which arise are fully documented.

Cells, Cultured↗
PubMed2001

Information system for the support of research, diagnosis and therapy of inborn metabolic diseases.

We developed an information system for inborn metabolic diseases. The system consists of three parts. The first part is the MD-Cave for information on laboratory findings, genes, enzymes and metabolic pathways. The second part (ASDB) concerns with active agents and their different mechanisms of action inside the metabolic pathway and possible therapeutic treatment of these illnesses. The third part deals with the integration of these and other data bases for easy access to different information. This information system can be helpful for scientists and physicians working in the field of inborn metabolic diseases.

Biochemical Phenomena↗
PubMed2001

Ultrastructural examination of the axillary skin biopsy in the diagnosis of metabolic diseases.

There is little information in the literature regarding the usefulness of ultrastructural examination of axillary skin biopsies in the evaluation of metabolic diseases. This is a retrospective clinicopathologic review of 143 patients who underwent axillary skin biopsies as part of evaluations for metabolic disease. Twenty-three (16%) had abnormalities, classified as follows: mitochondrial (n = 12), lysosomal (n = 6), increased glycogen (n = 3), nonspecific cytoplasmic inclusions (n = 2), ceroid lipofuscinosis (n = 1), and intradermal giant cells containing vacuoles and tubular inclusions (n = 1). Muscle biopsies were performed in 13 of the 23 patients; 11 showed abnormalities, including those related to mitochondria (n = 4) and other nonspecific changes (n = 7). Two patients underwent postmortem examination. Follow-up was available in 21 patients. A clinical or biochemical diagnosis was reached in 11 patients: metachromatic leukodystrophy (n = 2), electron transport chain abnormalities (n = 2), glutaric aciduria type II (n = 1), Unverricht disease (n = 1), Lennox-Gastaut syndrome (n = 1), ketotic hypoglycemia of childhood (n = 1), probable Leigh disease (n = 1), 5-methyl tetrahydrofolate homocystine methyltransferase deficiency (n = 1), and pyruvate dehydrogenase deficiency (n = 1). Of the 120 patients with negative skin biopsy results, 29 had abnormal findings on muscle (n = 27), nerve (n = 7), or brain (n = 3) biopsies. One patient had an abnormal heart biopsy result, and 3 patients underwent postmortem examinations. Follow-up was obtained in 27 of 29 patients. Diagnoses were achieved in 15 patients: electron transport chain abnormalities (n = 5), cortical dysplasia (n = 3), myoclonic epilepsy (n = 1), leukodystrophy (n = 2), Pallister-Killian mosaic syndrome (n = 1), Rett syndrome (n = 1), Landau-Kleffner syndrome (n = 1), and mitochondrial cardiomyopathy (n = 1). In conclusion, axillary skin biopsy is helpful in the evaluation of some causes of metabolic disease, but often the findings are nonspecific. A negative biopsy result does not rule out the possibility of metabolic disease, but a positive result may provide direction for further evaluation.

Adolescent↗
PubMed1999

Radiocontrast interference in screening tests for genetic-metabolic diseases.

Screening tests for genetic metabolic diseases remain extremely useful due to their rapidity, ease of interpretation and substantial reduction of cost. However, interferences in these tests are still a source of concern in laboratory medicine. Cost considerations have so compressed the duration of the medical work-up that the administration of radiologic contrast may often antedate the collection of body fluids for genetic-metabolic testing. It has been found that under these circumstances, certain contrast media may interfere with the urinary studies of amino acids, organic acids, and tests involving ultraviolet absorption such as those concerned with purines, pyrimidines, and related compounds. The consequences of interference may be misdiagnosis, repeated testing, extensive and expensive work-ups, and unnecessary delay and anxiety for the family. As in all testing, it is prudent to avoid medications and atypical diets, if possible. In the case of contrast media, it is a simple matter to collect samples for analysis prior to the administration of radiocontrast so as to avoid the pitfalls and yet not delay the diagnostic work-up.

Artifacts↗