Publications by authors named "Aida Lemes"
Human mitochondrial diseases are a group of heterogeneous diseases caused by defects in oxidative phosphorylation, due to mutations in mitochondrial (mtDNA) or nuclear DNA. The diagnosis of mitochondrial disease is challenging since mutations in multiple genes can affect mitochondrial function, there is considerable clinical variability and a poor correlation between genotype and phenotype. Herein we assessed mitochondrial function in peripheral blood mononuclear cells (PBMCs) and platelets from volunteers without known metabolic pathology and patients with mitochondrial disease.
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- - This study examined how phenylketonuria (PKU) is diagnosed and managed through diet in Latin America, using a survey sent to healthcare professionals across 14 countries.
- - Results showed that screenings for PKU are common, but dietary management varies greatly, with most countries lacking flavored amino acid substitutes and low-protein foods, and only a few having resources like nutrient analysis software.
- - Key barriers to effective treatment included low purchasing power, insufficient availability of low-protein foods, and inadequate technical resources, highlighting a need for improved dietary support for PKU patients in the region.
Hypomyelinating leukodystrophies are genetic disorders characterized by insufficient myelin deposition during development. They are diagnosed on the basis of both clinical and MRI features followed by genetic confirmation. Here, we report on four unrelated affected individuals with hypomyelination and bi-allelic pathogenic variants in EPRS, the gene encoding cytoplasmic glutamyl-prolyl-aminoacyl-tRNA synthetase.
View Article and Find Full Text PDFMitochondrial diseases are a group of clinically heterogeneous disorders that can be difficult to diagnose. We report a two and a half year old girl with clinical symptoms compatible with Leigh disease but with no definitive diagnosis. Using next generation sequencing we found that mutation 3697G>A was responsible for the patient's clinical symptoms.
View Article and Find Full Text PDFThis review aims to provide clinicians in Latin America with the most current information on the clinical aspects, diagnosis, and management of Hunter syndrome, a serious and progressive disease for which specific treatment is available. Hunter syndrome is a genetic disorder where iduronate-2-sulfatase (I2S), an enzyme that degrades glycosaminoglycans, is absent or deficient. Clinical manifestations vary widely in severity and involve multiple organs and tissues.
View Article and Find Full Text PDFPhenylketonuria is a treatable inborn error of amino acid metabolism caused by deficiency of the enzyme phenylalanine hydroxylase, responsible for converting phenylalanine to tyrosine. We report a 10-month-old boy with psychomotor regression and infantile spasms. He was diagnosed with classic phenylketonuria and West syndrome.
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- A collaborative effort involving 154 laboratories across 49 countries aims to enhance newborn screening quality using a new approach based on tandem mass spectrometry.
- Multivariate pattern recognition software was developed by analyzing a large database of results, allowing for the integration of multiple clinical data points into a single score.
- The evaluation of this approach indicates significant improvements, with tools potentially reducing false-positive diagnoses by over 50% and false-negative cases by 88%, contributing to very low false-positive rates in Minnesota's screening results.
Article Synopsis
- The study aimed to clinically validate cutoff values for newborn screening using tandem mass spectrometry by collaborating globally.
- Researchers analyzed data from about 25-30 million normal newborns and over 10,700 true positive cases to establish clinically significant cutoff ranges.
- As of December 2010, data from 130 sites in 45 countries contributed to defining cutoff ranges for 114 markers, showcasing a high level of international cooperation in screening for rare metabolic disorders.
We report the clinical, biochemical and molecular findings on the first documented patient with 4-hydroxybutyric aciduria (4-HBA, McKusick 271980) from Uruguay. The patient displayed a severe picture and turned out to be homozygous for a mutation (c.1226G < A) previously shown to be associated with null enzyme activity.
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