A5053193839- Metabolism and Genetic Disorders
- Glycogen Storage Diseases and Myoclonus
- Biomedical Research and Pathophysiology
- Diet and metabolism studies
- Lysosomal Storage Disorders Research
- Therapeutic Uses of Natural Elements
- Genomics and Rare Diseases
- Carbohydrate Chemistry and Synthesis
- Mitochondrial Function and Pathology
- Medical and Biological Ozone Research
- Metabolomics and Mass Spectrometry Studies
- Genetics and Neurodevelopmental Disorders
- Linguistics and Education Research
- Selenium in Biological Systems
- Neurogenetic and Muscular Disorders Research
- Science and Education Research
- Folate and B Vitamins Research
- Infectious Encephalopathies and Encephalitis
- Child Nutrition and Feeding Issues
- Infant Nutrition and Health
Universidade Federal do Rio Grande do Sul
2021-2024
Hospital IPO
2021
Universidade Federal do Paraná
2020
Medical Research Council
2020
Universidade Federal de São Paulo
2018-2019
Universidade Federal do Pará
2015
We assessed levels of plasma selenium (Se), selenoproteins and their change after Se supplementation in patients with mucopolysaccharidosis (MPS) types I, II VI. This was done a retrospective study the medical records 30 MPS I (n=13), (n=9) VI (n=8) who were being treated enzyme replacement therapy. As part routine nutritional monitoring, measured, revealing that 28 (93.3%) had values below normal range. Therefore, they received for 12 months, measured 6 months. Glutathione peroxidase (GPx)...
Mitochondrial complex I (CI) deficiency is the most common oxidative phosphorylation disorder described. It shows a wide range of phenotypes with poor correlation within genotypes. Herein we expand clinics and genetics CI in brazilian population by reporting three patients pathogenic (c.640G>A, c.1268C>T, c.1207dupG) likely (c.766C>T) variants NDUFV1 gene. We show mutation c.766C>T associated childhood onset phenotype hypotonia, muscle weakness, psychomotor regression, lethargy, dysphagia,...
To expand the clinical phenotype of
Abstract Background Glycogen storage disease type 1a (GSD Ia) is characterized by severe fasting hypoglycemia. The clinical management includes the administration of uncooked cornstarch (UCCS). Although such a diet approach effective in achieving euglycemia, its impact on quality life patients should be considered. In vitro analyses suggest longer release glucose when using sweet manioc starch (SMS). Methods We compared efficacy and safety SMS UCCS during short-fasting challenge with GSD Ia...
Phenylketonuria (PKU) is an inherited metabolic disorder derived from a deficiency in the enzyme phenylalanine hydroxylase, which converts amino acid (Phe) into tyrosine (Tyr). Here we aimed to examine metabolism of Phe and Tyr heterozygotes for PKU during fasting after oral overload (25 mg/kg). Plasma concentration Phe2–Tyr ratio were determined under condition or 30, 45, 60, 90 minutes overload. The sample consisted 50 participants: 23 (10 men 13 women) control group 27 healthy individuals...
Abstract Background Mucopolysaccharidosis (MPS) are inborn errors of metabolism (IEM) recognized by deficient enzymes enrolled in glycosaminoglycans catabolism. The resulting accumulation leads to clinical progressive and generalized manifestations. Considering the severity MPS relevance establishing dietetic strategies these patients, present study was tailored evaluate food intake patients with types I, II, VI. Methods Food VI assessed. A descriptive cross-sectional conducted. Energetic...
Abstract Background Glycogen storage disease type Ia (GSD-Ia) is one of the most common hepatic GSD. Its treatment mainly consists a diet including high intake slow-digestion carbohydrates such as raw cornstarch and restriction simple sugars. This enables maintenance euglycemia prevents secondary metabolic disorders. Starch glucose polymer formed by amylose amylopectin, which can be obtained from distinct sources. Although uncooked has been successfully used in GSD-Ia, it lead to...
The mainstay of management phenylketonuria (PKU) is restriction dietary phenylalanine (Phe) intake. present study sought to assess the perception and understanding health care providers lay users (patients/family members/caregivers) regarding national reference database for checking Phe content foods, provided by Brazilian Health Regulatory Agency (Anvisa), whose data are presented in Table Phenylalanine Content Foods (TCFA-Anvisa) recently Dashboard (PCCFA-Anvisa); identify factors which...