Results 171 to 180 of about 2,017,541 (209)

Oxidative stress in branched-chain organic acidemias using thiol-disulfide homeostasis

Journal of Pediatric Endocrinology & Metabolism (JPEM)
Objectives Branched-chain organic acidemias (OAs) are inherited metabolic disorders resulting from enzyme deficiencies in the catabolic pathway of branched-chain amino acids, which could lead to mitochondrial dysfunction and oxidative stress.
Emine Göksoy, Burcu Kumru Akın, Mehmet Keskin, Hakim Çelik   +3 more
semanticscholar   +1 more source

Detection of Organic Acidemias in Brazil

Archives of Medical Research, 2002
Organic acidurias or organic acidemias are inherited metabolic disorders in which organic acids (carboxylic acids) accumulate in tissues and physiologic fluids of affected individuals. They are considered the most frequent metabolic disorders among severely ill children. Patients frequently present acute symptoms in early life.
Moaçir, Wajner, Kimiyo, Raymond, Alethéa, Barschak, Ana Paula, Luft, Gustavo, Ferreira, Gislane, Domingues, Marina, Chiochetta, Lisana, Sirtori, Laureci, Goulart, Vânia, Pulrolnik, Ricardo, Pires, Eugênio, Grillo, Alfredo, Lohr, Carolina, Funayama, Maria Teresa, Sanseverino, Júlio César, Longuercio-Leite, Janice C, Coelho, Roberto, Giugliani, Carmen, Regla-Vargas   +18 more
openaire   +2 more sources

Prenatal Diagnosis of Organic Acidemias – Experience from a Tertiary Care Hospital in India

Genetic clinics
In India, the tradition of marriages, largely confined to the same ethnic groups or within families, increases the proportion of autosomal recessive genetic disorders. This includes organic acidemias (OAs) too.
D. Gupta, Sunita Bijarnia-Mahay, S. Kohli, S. Dubey, D. Thomas, Papai Roy, Jyotsna Verma, Renu Saxena, I. Verma, R. Puri   +9 more
semanticscholar   +1 more source

Common Organic Acidemias in a Tertiary Hospital in Egypt

The Quarterly journal of medicine
Organic acidemias (OAs) are a heritable group of heterogeneous metabolic disorders characterized by the accumulation of organic acids in body fluids and tissues. They are rare disorders and infrequently reported worldwide.
Amany Hosny Mohamed, Nada Hammad Abdel Fattah, Ola Ali Khalifa   +2 more
semanticscholar   +1 more source

Carnitine deficiency, organic acidemias, and Reye's syndrome

Neurology, 1985
Relative carnitine deficiency is important in the pathophysiology of several disorders, including Reye's syndrome and organic acidemias. In acute clinical crises, carnitine serves as a "buffer," trapping toxic acyl compounds. Mitochondrial failure develops in carnitine deficiency when there is insufficient tissue carnitine available to buffer toxic ...
Stumpf D. A., Parker W. D., Angelini C.
openaire   +2 more sources

Infantile Organic Acidemias

2017
J. Pascual
openaire   +2 more sources

The Therapeutic Hypothermia in Treatment of Hyperammonemic Encephalopathy due to Urea Cycle Disorders and Organic Acidemias

Klinische Pädiatrie, 2019
Background Hyperammonemic encephalopathy in newborns with urea cycle disorders and certain organic acidurias can cause severe brain injury, coma and death. Standard therapy includes protein restriction, nitrogen-scavenging drugs, prevention of catabolism
D. Ninković, Ž. Mustapić, D. Bartoniček, V. Benjak, Mario Ćuk, A. D. Buljević, B. F. Grčić, K. Fumic, R. Grizelj, I. Lehman, D. Ramadža, V. Sarnavka, J. Slaviček, Jasminka Stipanović Kastelić, N. Barišić, I. Barić   +15 more
semanticscholar   +1 more source

Short‐chain organic acidemia and Reye's syndrome

Neurology, 1975
Short-chain fatty acids were determined prior to therapy in seven patients with Reye's syndrome. Elevated concentrations of propionate, butyrate, and isobutyrate were found in all patients. Isovalerate concentrations were high in three patients. In view of the fact that the administration of certain short-chain fatty acids to experimental animals ...
D A, Trauner, W L, Nyhan, L, Sweetman
openaire   +2 more sources

[Molecular basis of organic acidemia--propionic acidemia].

Human cell, 1991
Propionic acidemia is an inborn error of organic acid metabolism caused by deficiency of propionyl-CoA carboxylase (PCC: E. C. 6. 4. 1. 3.). We have detected three types of mutation in the same exon of the coding sequence of beta-subunit of PCC (beta PCC) from two ethnic background (Caucasians and Japanese): an insertion/deletion which replaces 14 ...
T, Tahara, Y, Eto, J P, Kraus, L E, Rosenberg   +3 more
openaire   +1 more source

Holocarboxylase synthetase deficiency: A biotin-responsive organic acidemia

The Journal of Pediatrics, 1980
The clinical and biochemical features of an infant affected by holocarboxylase synthetase deficiency are presented. The patient was the sibling of the deceased child in whose cultured skin fibroblasts the precise enzymatic disorder was first determined.
K S, Roth, W, Yang, J W, Foremann, R, Rothman, S, Segal   +4 more
openaire   +2 more sources