d.elsayedmohammed

Elsayed Abdelkreem

Lecturer - Lecturer of Pediatrics

Faculty of medicine

Address: AlShikh-Shibl Village, AlMaragha City, Sohag

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Publications Which contain the keyword: Ketoacidosis


2018-09-16 13:34:47 Keywords OXCT1, SCOT deficiency, Ketoacidosis, Heterozygous carriers,
Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis
Succinyl-CoA:3-oxoacid CoA transferase (SCOT, gene symbol _OXCT1_) deficiency is an autosomal recessive disorder in ketone body utilization that results in severe recurrent ketoacidotic episodes in infancy, including neonatal periods. More than 30 patients with this disorder have been reported and to our knowledge, their heterozygous parents and siblings have had no apparent ketoacidotic episodes. Over 5 years (2008–2012), we investigated ... Read more

Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years' experience of a medical center in northern Vietnam
Beta-ketothiolase (T2) deficiency is an inherited disease of isoleucine and ketone body metabolism caused by mutations in the _ACAT1_ gene. Between 2005 and 2016, a total of 41 patients with T2 deficiency were identified at a medical center in northern Vietnam, with an estimated incidence of one in 190,000 newborns. Most patients manifested ketoacidotic episodes of varying severity between 6 ... Read more

Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency
Beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase (T2) deficiency) is an inherited disease of isoleucine catabolism and ketone body utilization caused by _ACAT1_ mutations. We identified ten Indian patients who manifested with ketoacidotic episodes of variable severity. The patients showed increased urinary excretion of isoleucine-catabolic intermediates: 2-methyl-3-hydroxybutyrate, 2-methylacetoacetate, and tiglylglycine. Six patients had a favorable outcome, one died, and three developed neurodevelopmental ... Read more