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| http://dx.doi.org/10.1212/NXG.0000000000200023 | DOI Listing |
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Anaesthetic management of an infant with MEGD(H)EL syndrome undergoing cochlear implant.
BMC Anesthesiol
November 2024
Lecturer of Anaesthesia and Surgical Intensive Care, Faculty of Medicine, Port Said University, Port Fuad, Egypt.
Background: The syndrome has these features: 3-methylglutaconic aciduria (MEG), deafness(D), encephalopathy (E), Leigh-like syndrome (L). This disorder is caused by biallelic mutations in serine active site-containing protein 1 (SERAC1) gene. When these patients experience hepatopathy (H) in addition to the above manifestations, the syndrome is referred to as MEGD(H)EL.
View Article and Find Full Text PDFCase Report: A Chinese child with Barth syndrome caused by a novel mutation.
Front Cardiovasc Med
September 2024
Medical Genetic Department, The Affiliated Hospital of Qingdao University, Qingdao, China.
Barth syndrome (BTHS) is a rare X-linked recessive genetic disorder characterized by a broad spectrum of clinical features including cardiomyopathy, skeletal myopathy, neutropenia, growth delay, and 3-methylglutaconic aciduria. This disease is caused by loss-of-function mutations in the gene located on chromosome Xq28, resulting in cardiolipin deficiency. Most patients are diagnosed in childhood, and the mortality rate is highest in the early years.
View Article and Find Full Text PDFNovel heterozygous OPA3 variant in a family with congenital cataracts, sensorineural hearing loss and neuropathy, without optic atrophy and comparison of pathogenic and population variants.
Am J Med Genet A
January 2025
University of California, San Francisco, San Francisco, California, USA.
Heterozygous mutations in the OPA3 gene are associated with autosomal dominant optic atrophy-3 (OPA3), whereas biallelic mutations cause autosomal recessive 3-methylglutaconic aciduria type III. To date, all cases with pathogenic variants in the gene OPA3 have presented with optic atrophy. We report a large family with congenital cataracts, hearing loss and neuropathy, with a likely pathogenic novel missense variant in OPA3, c.
View Article and Find Full Text PDFMitochondrial membrane synthesis, remodelling and cellular trafficking.
J Inherit Metab Dis
June 2024
Mitochondrial Research Group, Genetics and Genomic Medicine Department, UCL Great Ormond Street Institute of Child Health, London, UK.
Mitochondria are dynamic cellular organelles with complex roles in metabolism and signalling. Primary mitochondrial disorders are a group of approximately 400 monogenic disorders arising from pathogenic genetic variants impacting mitochondrial structure, ultrastructure and/or function. Amongst these disorders, defects of complex lipid biosynthesis, especially of the unique mitochondrial membrane lipid cardiolipin, and membrane biology are an emerging group characterised by clinical heterogeneity, but with recurrent features including cardiomyopathy, encephalopathy, neurodegeneration, neuropathy and 3-methylglutaconic aciduria.
View Article and Find Full Text PDFElevated C5-hydroxy acylcarnitine in an infant girl as a result of holocarboxylase synthetase deficiency.
Clin Chim Acta
June 2024
Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, United States; Children's Health System, Dallas, TX, United States. Electronic address:
Context: Elevated 3-hydroxyisovaleryl-/2-methyl-3-hydroxybutyryl (C5-OH) acylcarnitine in blood can result from several genetic enzyme deficiencies: 3-methylcrotonyl CoA carboxylase deficiency, 3-hydroxy 3-methylglutaryl-CoA lyase deficiency, beta-ketothiolase deficiency, 2-methyl 3-hydroxybutyryl-CoA dehydrogenase deficiency, primary 3-methylglutaconic aciduria, multiple biotin-dependent carboxylase deficiencies and biotin metabolism disorders. Biochemical tests help differentiate these causes while molecular tests are usually required for definitive diagnosis.
Case Description: We reported an infant girl with newborn screen findings of elevated C5-OH acylcarnitine.
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