Publications by authors named "Natalia A Julia-Palacios"
The protein encoded by COQ7 is required for CoQ synthesis in humans, hydroxylating 3-demethoxyubiquinol (DMQ) in the second to last steps of the pathway. COQ7 mutations lead to a primary CoQ deficiency syndrome associated with a pleiotropic neurological disorder. This study shows the clinical, physiological, and molecular characterization of four new cases of CoQ primary deficiency caused by five mutations in COQ7, three of which have not yet been described, inducing mitochondrial dysfunction in all patients.
View Article and Find Full Text PDFThe objective of the study is to evaluate the evolving phenotype and genetic spectrum of patients with succinic semialdehyde dehydrogenase deficiency (SSADHD) in long-term follow-up. Longitudinal clinical and biochemical data of 22 pediatric and 9 adult individuals with SSADHD from the patient registry of the International Working Group on Neurotransmitter related Disorders (iNTD) were studied with in silico analyses, pathogenicity scores and molecular modeling of ALDH5A1 variants. Leading initial symptoms, with onset in infancy, were developmental delay and hypotonia.
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- - Limb-girdle muscular dystrophies (LGMD) include various genetic muscle disorders, and the TRAPPC11-related LGMD R18 is noted for causing muscle weakness and intellectual disability, particularly in Roma individuals due to a specific genetic variant.
- - A study of 25 Roma individuals revealed that the c.1287+5G>A variant results in early muscle weakness and intellectual challenges, along with almost universal microcephaly and potential seizures triggered by early-life infections.
- - Findings suggest that the genetic variant not only affects muscle function but also disrupts mitochondrial health, revealing insights into its impact on energy production and cellular structure in affected individuals.
Article Synopsis
- Glycine encephalopathy (NKH) is a genetic neurometabolic disorder that can lead to a range of symptoms, from severe epileptic seizures in infants to psychiatric issues, highlighting the need for better diagnosis and understanding of the disease's severity.
- Research involved analyzing data from 25 individuals with NKH to identify symptom onset and diagnostic indicators, discovering specific glycine ratio thresholds that can help differentiate between severe and attenuated forms of the disorder.
- The study not only identifies new genetic variants associated with NKH but also proposes a model based on multiple factors to predict the disease's severity, which could enhance patient management and treatment strategies.
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.
J Inherit Metab Dis
November 2021
Inherited disorders of neurotransmitter metabolism are a group of rare diseases, which are caused by impaired synthesis, transport, or degradation of neurotransmitters or cofactors and result in various degrees of delayed or impaired psychomotor development. To assess the effect of neurotransmitter deficiencies on intelligence, quality of life, and behavior, the data of 148 patients in the registry of the International Working Group on Neurotransmitter Related Disorders (iNTD) was evaluated using results from standardized age-adjusted tests and questionnaires. Patients with a primary disorder of monoamine metabolism had lower IQ scores (mean IQ 58, range 40-100) within the range of cognitive impairment (<70) compared to patients with a BH deficiency (mean IQ 84, range 40-129).
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