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[Incidence of coronary disease and other metabolic diseases in 80 gout patients].

A study about gout associated with hypertension, diabetes, ischemic cardiopathy and different alterations in the sanguineous levels of lipids was conducted on 80 patients of the Rheumatology Service at the National Institute of Cardiology in Mexico City. We found abnormal levels of tryglicerids in the blood of 55% of the patients and a high level of cholesterol in only 5%. In 27% of the patients, some alteration showed in the carbo-hydrates methabolism, and in 22,5% of them we found systemic arterial hipertension. Slight ischemic cardiopathy was showing in a 37% of the patients, but uric acid level in blood seemed to be of little importance for the frequency, type or severity of the coronary heart disease. We made a comparison between the results we obtained through these studies and those found among the Mexican population and with information found in international medical publications.

Adolescent↗
PubMed1977

An approach to the diagnosis of overwhelming metabolic disease in early infancy.

Heritable metabolic disease is a significant cause of overwhelming illness in the very young infant. It appears that most patients with well recognized disorders are not being diagnosed, and it is our conviction that there are new, as yet unidentified, inborn errors of metabolism in this population of patients. We have attempted to develop a systematic approach to the seriously ill newborn as a candidate for an early diagnosis of metabolic disease. There are some clinical clues that suggest the presence of disordered metabolism. The laboratory can be useful in confirming initial clinical suspicions and in screening for the presence of abnormality. The complexity of laboratory evaluation increases as one proceeds to definitive diagnosis and modern organic analysis.

Amino Acid Metabolism, Inborn Errors↗
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↗
PubMed2026

Identifying Co-Expressed lncRNAs Correlated With Traits of Interest in an Animal Model for Metabolic Diseases in Humans.

Nutrigenomics investigates how nutrients modulate gene expression. Among them, fatty acids (FA) play important roles in regulating gene transcription, while long non-coding RNAs (lncRNAs) may be associated with gene regulation and metabolic diseases. This study aimed to analyze the hepatic transcriptome of pigs, a species frequently used as a model for nutrigenomic studies, to identify novel lncRNAs and their potential target genes in response to diets containing different sources of FA. Seventy-two pigs were fed four diets supplemented with 1.5% soybean oil (control), 3% canola oil, 3% fish oil, and 3% soybean oil. RNA sequencing of liver samples was performed to identify novel lncRNAs. Weighted Gene Co-expression Network Analysis (WGCNA) was used to identify modules associated with phenotypic traits related to lipid metabolism and inflammation. Functional enrichment analyses were then conducted to annotate genes within these modules using Gene Ontology (GO) terms and to assess overlap with Quantitative Trait Loci (QTL). The results revealed 106 novel lncRNAs potentially regulating genes associated with lipid metabolism and immune responses in pigs fed diets with different FA sources. These findings enhance understanding of the regulatory role of lncRNAs in pigs and reinforce their relevance as models for human metabolic diseases.

Animals↗
PubMed1977

A comprehensive screening method for detecting organic acidurias and other metabolic diseases in acutely sick infants and children.

A protocol is described for the comprehensive screening of acutely ill neonates and infants for inherited metabolic diseases, with particular reference to the organic acidurias. A group of simple initial tests provide positive pointers to metabolic disorders, leading to comprehensive screening tests for the aminoacidopathies and organic acidurias. Specimen chromatograms of urinary organic acids in the normal neonate, infant, and child, obtained using the methods described, are given and compared with that from the urine of a child with previously unreported 2-hydroxyglutaric aciduria. The place of the scheme in the management of inherited metabolic disease in the perinatal period and its relationship to other screening programmes are discussed. It is estimated that use of the protocol would allow the detection of about one-half of the known inborn errors of metabolism, including the aminoacidopathies, the organic acidurias, the hyperammonaemias, and several disorders of carbohydrate metabolism, many of which present acutely in the neonate and infant.

Amino Acids↗
PubMed1975

Renal transplantation in congenital and metabolic diseases. A report from the ASC/NIH renal transplant registry.

The results of kidney transplantation in a variety of renal diseases have been analyzed. The diseases causing end-stage kidney failure in recipients were Alport syndrome, amyloidosis, cystinosis, diabetes mellitus, Fabry disease, familial nephritis, gout, medullary cystic disease, oxalosis, and systemic lupus erythematosus. The data indicate that renal transplantation is justifiable and parallels functional results for the more common causes of end-stage renal disease in all but Fabry disease and oxalosis. Although Fabry disease did not recur in any grafted kidney, only three patients have a functioning graft one year after transplantation. From a group of ten patients with oxalosis who received a total of 14 kidneys, only one survives. In no other metabolic disease, except one instance of primary amyloidosis, did the metabolic disease notably affect the transplant as it did in oxalosis.

Adolescent↗
PubMed1978

Molecular biology of metabolic disease: defects in the regulation of enzymic activity.

The Jacob-Monod model for the regulation of enzymic activity has been used in the analysis of some types of metabolic disease. Three lesions have been considered: (1) loss of allosteric inhibition of phosphofructokinase by citrate in the condition of lipomatosis; (2) failure of covalent modification of triglyceride lipase from inactive to active forms in the condition of triglyceride storage disease, and (3) failure of repression of HMG-CoA reductase by a mutant low-density liprotein in a new variant-of familial hypercholesterolaemia. Defects in enzymic regulation are contrasted with catalytic defects (the inborn errors); the major difference being an accumulation of a normal metabolic end-product of an unregulated pathway, rather than accumulation of an unusual intermediary metabolite as in the inborn errors.

Adipose Tissue↗
PubMed1977

Inherited metabolic disease: prospects for the future in both basic and clinical research.

The birth of a child with an inherited disorder is often the beginning of a life-long problem for the whole family. About 8.5% of paediatric deaths and 4.7% of paediatric hospital admissions are due to autosomal and sex-linked recessive diseases. These figures are likely to be erroneously low because of incomplete ascertainment. The inherited metabolic diseases therefore merit study on economic as well as humanitarian grounds. Investigations of the disorders of purine metabolism have been conducted for more than a century and a half in the borderland between biochemistry and medicine, illuminating both disciplines and reflecting their separate developments. These studies are a general model for work in other branches of human intermediary metabolism. It is hoped that the basic study of the inborn errors or metabolism will expand our knowledge of the defective gene and of its product, the enzyme protein. Clinical studies should aim to improve the prenatal, postnatal and carrier-state diagnosis of these disorders, and to improve their treatment by methods which can be made practicable and generally available at the clinical level. There may be some hope for enzyme replacement in certain circumstances. The prospect for genetic modification at the clinical level is almost infinitely far away, where many would say that is should remain.

Amniotic Fluid↗
PubMed2026

SNP-derived CpG variation and DNA methylation linking genetic susceptibility to metabolic disease.

DNA methylation at CpG dinucleotides represents a key epigenetic mechanism linking genetic variation to gene regulation in complex human diseases. Single-nucleotide polymorphisms (SNPs) that create or disrupt CpG sites can alter local DNA methylation and transcriptional activity, thereby influencing disease susceptibility. These CpG-modifying variants provide a functional interface between inherited genetic variation and epigenetic regulation in complex metabolic disorders. This review summarizes current evidence on SNP-derived CpG variation and its role in allele-specific DNA methylation and gene regulation in metabolically relevant tissues. By integrating findings from genome-wide association studies, epigenome-wide association studies, and multi-omics research, this review provides a mechanistic framework explaining how CpG-modifying polymorphisms influence adipogenesis, pancreatic β-cell function, inflammation, and glucose metabolism. Special emphasis is placed on South Asian populations, who exhibit early β-cell dysfunction and increased visceral adiposity. Many CpG-modifying variants act as methylation quantitative trait loci (meQTLs), influencing allele-specific methylation and gene expression. Understanding SNP-CpG-methylation interactions may improve functional interpretation of disease-associated genetic variants, enhance biomarker discovery, and support precision medicine strategies for metabolic disease.

Humans↗