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.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/s1089-3261(02)00013-2 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A crucial active site network of titratable residues guides catalysis and NAD binding in human succinic semialdehyde dehydrogenase.
Protein Sci
January 2025
Department of Neuroscience, Biomedicine and Movement Sciences, Section of Biochemistry, University of Verona, Verona, Italy.
Human succinic semialdehyde dehydrogenase is a mitochondrial enzyme fundamental in the neurotransmitter γ-aminobutyric acid catabolism. It catalyzes the NAD-dependent oxidative degradation of its derivative, succinic semialdehyde, to succinic acid. Mutations in its gene lead to an inherited neurometabolic rare disease, succinic semialdehyde dehydrogenase deficiency, characterized by mental and developmental delay.
View Article and Find Full Text PDFFamilial hypercholesterolemia in Chinese children and adolescents: a multicenter study.
Lipids Health Dis
December 2024
Department of Endocrinology, Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, Zhejiang, 310052, China.
Background: Familial hypercholesterolemia (FH) is an inherited disorder mainly marked by increased low-density lipoprotein cholesterol (LDL-C) concentrations and a heightened risk of early-onset arteriosclerotic cardiovascular disease (ASCVD). This study seeks to characterize the genetic spectrum and genotype‒phenotype correlations of FH in Chinese pediatric individuals.
Methods: Data were gathered from individuals diagnosed with FH either clinically or genetically at multiple hospitals across mainland China from January 2016 to June 2024.
Vascular Ehlers-Danlos syndrome in children: evaluating the importance of diagnosis and follow-up during childhood.
Eur J Hum Genet
December 2024
National EDS Service, London North West University Healthcare NHS Trust, London, UK.
Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited connective tissue disorder predominantly caused by pathogenic COL3A1 variants. Characteristic arterial and intestinal fragility and generalised severe tissue friability can lead to clinical events from childhood. We highlight a paucity of literature regarding children diagnosed with vEDS, possibly explained by a restraint in predictive testing, and present data on 63 individuals (23 index cases) with a clinical and genetic diagnosis of vEDS in childhood (<18 years) to address this.
View Article and Find Full Text PDFInterruption of the visual cycle in a novel animal model induces progressive vision loss resembling Stargardts Disease.
Sci Rep
December 2024
INCI-UPR3212-CNRS, 8 Allée du Général Rouvillois, 67000, Strasbourg, France.
Mutations in the gene ABCA4 coding for photoreceptor-specific ATP-binding cassette subfamily A member 4, are responsible for Stargardts Disease type 1 (STGD1), the most common form of inherited macular degeneration. STGD1 typically declares early in life and leads to severe visual handicap. Abca4 gene-deletion mouse models of STGD1 accumulate lipofuscin, a hallmark of the disease, but unlike the human disease show no or only moderate structural changes and no functional decline.
View Article and Find Full Text PDFAging through the lens of mitochondrial DNA mutations and inheritance paradoxes.
Biogerontology
December 2024
Second Affiliated Hospital of Heilongjiang University of Chinese Medicine, Harbin, China.
Mitochondrial DNA encodes essential components of the respiratory chain complexes, serving as the foundation of mitochondrial respiratory function. Mutations in mtDNA primarily impair energy metabolism, exerting far-reaching effects on cellular physiology, particularly in the context of aging. The intrinsic vulnerability of mtDNA is increasingly recognized as a key driver in the initiation of aging and the progression of its related diseases.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!