We report a case of a patient affected by compound heterozygosis for two PK-LR gene mutations: p.R486W (c.1456C>T) and p.M403I (c.1209G>A). Our patient suffered from an initial moderate hemolytic anemia which subsequently evolved into a severe form after mitral prosthetic valve replacement for valve regurgitation. Thereafter, the clinical features evolved into a worsening of anemia, heart failure and pulmonary hypertension, in the absence of valve dysfunction. This clinical picture improved only after an intensive transfusion regimen. This case highlights aspects concerning the intricate balance between the risks and benefits of a mechanical prosthetic valve implant in PK-deficient patients.
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http://dx.doi.org/10.1016/j.clinbiochem.2011.07.007 | DOI Listing |
Biomedicines
December 2024
Diagnostic and Interventional Neuroradiology Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
The glycosylphosphatidylinositol (GPI) is a glycol-lipid that anchors several proteins to the cell surface. The GPI-anchor pathway is crucial for the correct function of proteins involved in cell function, and it is fundamental in early neurogenesis and neural development. The PIG gene family is a group of genes involved in this pathway with six genes identified so far, and defects in these genes are associated with a rare inborn metabolic disorder manifesting with a spectrum of clinical phenotypes in newborns and children.
View Article and Find Full Text PDFMol Genet Metab Rep
March 2025
Andalusian Center of Developmental Biology (CABD), Universidad Pablo de Olavide-CSIC-JA, 41013 Seville, Spain.
Background And Aims: Primary Coenzyme Q (CoQ) deficiency caused by defects is a clinically heterogeneous mitochondrial condition characterized by reduced levels of CoQ in tissues. Next-generation sequencing has lately boosted the genetic diagnosis of an increasing number of patients. Still, functional validation of new variants of uncertain significance is essential for an adequate diagnosis, proper clinical management, treatment, and genetic counseling.
View Article and Find Full Text PDFJ Inherit Metab Dis
January 2025
Department of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.
AADC deficiency is a severe neurometabolic inherited rare disorder due to the absence or decrease of dopamine and serotonin levels, causing deep motor and neurodevelopmental impairments. The disease is often fatal in the first decade of life, and pharmacological treatments (dopamine agonists, pyridoxine, and monoamine oxidase inhibitors as the first-line choices) can only alleviate the symptoms. Gene therapy surgery is now available for severe patients in the European Union and the United Kingdom, and follow-up data witness encouraging improvements.
View Article and Find Full Text PDFInt J Mol Sci
June 2024
Grupo de Investigación Traslacional con Células iPS, Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), 28041 Madrid, Spain.
Autosomal dominant optic atrophy (ADOA) is a rare progressive disease mainly caused by mutations in , a nuclear gene encoding for a mitochondrial protein that plays an essential role in mitochondrial dynamics, cell survival, oxidative phosphorylation, and mtDNA maintenance. ADOA is characterized by the degeneration of retinal ganglion cells (RGCs). This causes visual loss, which can lead to legal blindness in many cases.
View Article and Find Full Text PDFMol Genet Metab Rep
June 2024
Department of Neuroscience, Biomedicine and Movement Sciences, Section of Biochemistry, University of Verona, Strada Le Grazie 8, 37134 Verona, Italy.
A case of an adult with borderline AADC deficiency symptoms is presented here. Genetic analysis revealed that the patient carries two AADC variants (NM_000790.3: c.
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