نتایج جستجو برای: propionic acidemia

تعداد نتایج: 4552  

2013
Trygve O. Gabrielsen James E. Knake Joseph T. Latack

The cerebral computed tomographic findings in two infants with methylmalonic acidemia and one infant and one adult with propionic acidemia are presented. Pertinent metabolic, clinical, and pathologic features of these genetic disorders of vitamin B'2 (cobalamin) and biotin metabolism are reviewed briefly. Computed tomographic abnormalities consist of focal or diffuse deep cerebral hemisphere lu...

Journal: :Arquivos Brasileiros de Endocrinologia & Metabologia 2014

Journal: :The Journal of clinical investigation 1979
F X Coude L Sweetman W L Nyhan

In the search for the mechanism by which hyperammonemia complicates propionic and methylmalonic acidemia the effects of a series of acyl-coenzyme A (CoA) derivatives were studied on the activity of N-acetylglutamate synthetase in rat liver mitochondria using acetyl-CoA as substrate. Propionyl-CoA was found to be a competitive inhibitor. The inhibition constant of 0.71 mM is in the range of conc...

2013
Ashley Walker Craig M. Forsyth Patrick Perlmutter

The title compound, C28H40N2O2S2, was obtained as a minor product from an anti-aldol reaction between the corresponding N-propionyl-thiol-actam and benzaldehyde. The asymmetric unit contains one half-molecule, which is completed by inversion symmetry. The molecule displays a nearly eclipsed conformation along the central C-C bond with a C-C-C-C- torsion angle of 20.4 (3)°.

Journal: :Arquivos brasileiros de endocrinologia e metabologia 2014
Muhammad Rafique

OBJETIVO To evaluate the therapeutic agents used during metabolic crises and in long-term management of patients with propionic acidemia (PA). MATERIALS AND METHODS The records of PA patients were retrospectively evaluated. RESULTS The study group consisted of 30 patients with 141 admissions. During metabolic crises, hyperammonemia was found in 130 (92%) admissions and almost all patients w...

Journal: :Saudi medical journal 2004
Ammar C Al-Rikabi Hala I Al-Homsi

Necrolytic migratory erythema was first described in 1942 in a patient with pancreatic islet cell carcinoma. The disease can, however, have other etiologies including nutritional dermatoses. Here, we describe the clinicopathological picture of a 7-year-old female patient who presented with necrolytic migratory erythema which we believe is secondary to a rare combination of zinc deficiency and p...

Journal: :The journal of extra-corporeal technology 2017
Jeffrey W Gander Erika T Rhone William G Wilson John P Barcia Melissa J Sacco

The usual indications for extra corporeal membrane oxygenation (ECMO) are for respiratory or cardiac failure. Although continuous renal replacement therapy (CRRT) is frequently used when patients are on ECMO, the need for CRRT as the primary indication for ECMO is rare. A case of a neonate placed onto veno-venous ECMO for the use of CRRT to treat hyperammonemia from propionic acidemia is presen...

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