A5061393375- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Metabolomics and Mass Spectrometry Studies
- Folate and B Vitamins Research
- Diet and metabolism studies
- Amino Acid Enzymes and Metabolism
- Biochemical and Molecular Research
- Adipose Tissue and Metabolism
- Peroxisome Proliferator-Activated Receptors
- Renal function and acid-base balance
- Healthcare Regulation
- Cancer, Hypoxia, and Metabolism
- RNA regulation and disease
- Alcoholism and Thiamine Deficiency
- Muscle metabolism and nutrition
- Acute Myeloid Leukemia Research
- Skin Protection and Aging
- Nitric Oxide and Endothelin Effects
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Coenzyme Q10 studies and effects
- Retinoids in leukemia and cellular processes
- Porphyrin Metabolism and Disorders
- Multiple and Secondary Primary Cancers
- Sulfur Compounds in Biology
- Infectious Encephalopathies and Encephalitis
Hospital de Clínicas de Porto Alegre
2015-2025
Universidade Federal do Rio Grande do Sul
2006-2021
Services Hospital
2018
National Institute on Population Medical Genetics
2007
Abstract The deficiency of the enzyme glutaryl‐CoA dehydrogenase, known as glutaric acidemia type I (GA‐I), leads to accumulation acid (GA) and glutarilcarnitine (C5DC) in tissues body fluids, unleashing important neurotoxic effects. l ‐carnitine ( ‐car) is recommended for treatment GA‐I, aiming induce excretion toxic metabolites. ‐car has also demonstrated an role antioxidant anti‐inflammatory some neurometabolic diseases. This study evaluated GA‐I patients at diagnosis moment treated...
Abstract Maple syrup urine disease (MSUD) is a disorder of branched‐chain amino acids (BCAA). The defect in the α‐keto acid dehydrogenase complex activity leads to an accumulation these compounds and their corresponding α‐keto‐acids α‐hydroxy‐acids. Studies have shown that oxidative stress may be involved neuropathology MSUD. l ‐carnitine ( ‐car), which has demonstrated important role as antioxidant by reducing scavenging free radicals formation enhancing enzymes, been used treatment some...
d-2-hydroxyglutaric (D-2-HGA) and l-2-hydroxyglutaric (L-2-HGA) acidurias are rare neurometabolic disorders biochemically characterized by increased levels of acid (D-2-HG) (L-2-HG) respectively, in biological fluids tissues. These diseases caused mutations the specific enzymes involved metabolic pathways these organic acids. In present work, we first investigated whether D-2-HG L-2-HGA could provoke DNA oxidative damage blood leukocytes l-carnitine (LC) prevent vitro induced It was verified...
The mitochondrial fatty acids oxidation disorders (FAOD) are inherited metabolic (IMD) characterized by the accumulation of different sizes chain according to affected enzyme. This study evaluated lipid peroxidation measurement 8-isoprostanes, nitrosative stress parameters nitrite and nitrate content DNA RNA oxidative damage oxidized guanine species in urine samples from long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD), medium-chain acyl-CoA (MCADD) multiple (MADD) patients....
X-linked adrenoleukodystrophy (X-ALD) is an inherited disease characterized by progressive inflammatory demyelization in the brain, adrenal insufficiency, and abnormal accumulation of very long chain fatty acids (VLCFA) tissue body fluids. Considering that inflammation might be involved pathophysiology X-ALD, we aimed to investigate pro- anti-inflammatory cytokines plasma from three different male phenotypes (CCER, AMN, asymptomatic individuals). Our results showed patients presented...
Phenylketonuria (PKU) was the first genetic disease to have an effective therapy, which consists of phenylalanine intake restriction. However, there are patients who do not adhere treatment and/or submitted neonatal screening. PKU present L-carnitine (L-car) deficiency, compound that has demonstrated antioxidant and anti-inflammatory role in metabolic diseases. This study evaluated effect caused by exposure time high Phe levels at early late diagnosis, through pro- cytokines, as well L-car...
Urea cycle disorders (UCD) are a group of genetic diseases caused by deficiencies in the enzymes and transporters involved urea cycle. The impairment results ammonia accumulation, leading to neurological dysfunctions poor outcomes affected patients. aim this study is investigate describe UCD patients' principal clinical biochemical presentations support professionals on urgent diagnosis quick management, aiming better for We explored medical records 30 patients diagnosed referral center from...
ABSTRACT Propionic and methylmalonic acidemias (PAcidemia MMAcidemia, respectively) are genetic disorders clinically characterized by metabolic decompensation associated with life‐threatening encephalopathic episodes in the neonatal period. Adequate rapid therapeutic management is essential for patients' survival prognosis. In this study, a restricted protein diet L‐carnitine (LC) supplementation was shown to decrease mortality morbidity patients affected these probably decreasing...
Adrenoleukodystrophy (X-ALD) is an X-linked recessively inherited peroxisomal disorder, phenotypically heterogeneous, characterized by progressive white-matter demyelination of the central nervous system and adrenocortical insufficiency. We investigated 15 male X-ALD patients varying in age from 7 to 39, diagnosed among 108 suspected referred for investigation. Plasma levels very long chain fatty acids (VLCFA) were measured at our laboratory using gas chromatography (GC). Eleven cases...