Introduction: Epilepsy is a common manifestation in inborn errors of metabolism, with varying degrees of severity and response to treatment.
Objective: To determine its incidence and characteristics in metabolic diseases.
Material And Methods: A retrospective review of neuropaediatric and metabolic databases was performed. Data on the type of epilepsy, age of onset and refractoriness were collected.
Results: Two cases out of three (66%) with molybdenum cofactor deficiency and neonatal epileptic encephalopathy; three with vitamin-sensitive epilepsies: pyridoxamine sulphate oxidase deficiency, antichitin and biotinidase deficiency, early onset and good seizure control with biotin; one with homocystinuria, with late onset and polytherapy; one with Menkes disease difficult to control; two with GLUT-1 deficiencies with absent and generalized discharges in the electroencephalogram; five (33%) peroxisomes in monotherapy, except for a suspected peroxisome biogenesis deficiency; 13 (34%) lysosomal deficiencies; a glycosylation disorder, with infantile and refractory spasms; seven (8.5%) organic aminoacidopathies and acidurias, one with infantile spasms (propionic acidemia), three with nonketotic hyperglycinemia with neonatal epileptic encephalopathy, one with monotherapy (leukinosis) and two (3.3%) with unscreened hyperphenylalaninemia; and five (20%) mitochondrial, most of which had oxidative phosphorylation deficiencies.
Conclusions: The diagnosis of metabolic epilepsy requires a high level of suspicion in unscreened diseases. The semiology of the seizures and the electrocardiogram data are not characteristic, but some clinical data may provide guidance, such as early onset and refractoriness, neuroimaging and some biochemical markers. Although genetic studies are increasingly cost-effective in epilepsy, we must continue to search for earlier biomarkers and test targeted therapeutic trials.
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http://dx.doi.org/10.33588/rn.7905.2024088 | DOI Listing |
Pathol Res Pract
December 2024
Section of Pathology, Department of Medical Biotechnology, University of Siena, Siena, Italy. Electronic address:
Various aggressive lymphomas entities have been associated with immunodeficiency. To provide further evidence that also MYC-negative high-grade B-cell (formerly Burkitt-like) lymphoma with 11q aberrations comprises an immunodeficiency-related subtype, we here conducted a comprehensive pathological and genetic workup of a 25-year-old patient with this type of lymphoma and simultaneous papillary renal cell carcinoma. The patient developed both malignancies following extensive childhood immunosuppression and a kidney transplant.
View Article and Find Full Text PDFInt J Med Inform
December 2024
Department of Genetics and Metabolism, the Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China. Electronic address:
Background: Gas chromatography-mass spectrometry (GC-MS) has been shown to be a potentially efficient metabolic profiling platform in urine analysis. However, the widespread use of GC-MS for inborn errors of metabolism (IEM) screening is constrained by the rarity of IEM in population, and the difficult and specialized complexity of the interpretation of GC-MS organic acid profiles.
Methods: Based on 355,197 GC-MS test cases accumulated from 2013 to 2021 in China, a random forest-based machine learning model was proposed, trained, and evaluated.
Medicine (Baltimore)
December 2024
Newborn Screening Center, Jinan Maternal and Child Care Hospital, Jinan, P.R.China.
Rationale: The high clinical heterogeneity of hypermethioninemia caused by MAT1A gene defects has resulted in a paucity of studies examining the association between clinical phenotypes, biochemical characteristics, and gene mutations in this patient group. Furthermore, the indications for therapeutic interventions in patients remain unclear. The objective of this study is to provide a foundation for clinical diagnosis, genetic counseling, and follow-up management of hypermethioninemia caused by MAT1A gene defects.
View Article and Find Full Text PDFScand J Clin Lab Invest
December 2024
Division of Pediatric Immunology, Department of Basic Sciences of Pediatrics, Institute of Child's Health, Hacettepe University, Ankara, Turkey.
Background: Inborn Errors of Immunity (IEIs) are genetic diseases resulting from harmful genetic variations that hinder the proper functioning of the immune system. The broad range of IEIs involves multiple systems, presenting characteristics similar to allergies, autoimmune or inflammatory diseases, and malignancies. Given this complexity, there is an urgent need for a precise multi-parametric molecular diagnostic approach.
View Article and Find Full Text PDFOrphanet J Rare Dis
December 2024
Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, Amsterdam, 1105 AZ, The Netherlands.
Background: Bile acid synthesis defects (BASDs) can be severely disabling involving the liver and nervous system, potentially due to elevated levels of toxic C-bile acid intermediates. Cholic acid (CA) supplementation is hypothesized to decrease bile acid production, stimulate bile secretion and -flow, and slowing down disease progression. This systematic review assesses the clinical and biochemical effectiveness, and safety of CA in BASDs patients.
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