Elsayed Abdelkreem

Elsayed Abdelkreem
Sohag University · Department of Pediatrics

MD, PhD. (Pediatrics)

About

29
Publications
30,939
Reads
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203
Citations
Introduction
Lecturer at the Department of Pediatrics, Sohag University, Egypt. Interested in: 1- clinical and molecular characterization of ketone body disorders. 2- clinical research in pediatrics.
Additional affiliations
July 2015 - present
Gifu University
Position
  • Visiting researcher
Description
  • Study of clinical and molecular characterizations of ketone body disorders
February 2015 - July 2015
Sohag University
Position
  • PhD Student
Description
  • Study on new alternative therapeutic options for PPHN
April 2012 - July 2015
Sohag University
Position
  • Assistant lecturer
Description
  • Teaching undergraduate medical students the basic clinical skills in Pediatrics
Education
October 2013 - October 2015
Sohag University
Field of study
  • Pediatrics
April 2009 - June 2013
Sohag University
Field of study
  • Pediatrics
September 2001 - February 2008
Sohag University
Field of study
  • Medicine and sugery

Publications

Publications (29)
Article
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 ketoacido...
Article
Full-text available
Mitochondrial acetoacetyl‐CoA thiolase (T2, encoded by the ACAT1 gene) deficiency is an inherited disorder of ketone body and isoleucine metabolism. It typically manifests with episodic ketoacidosis. The presence of isoleucine‐derived metabolites is the key marker for biochemical diagnosis. To date, 105 ACAT1 variants have been reported in 149 T2‐d...
Article
Objectives To study the clinical and laboratory features, management, and outcome of pediatric non-diabetic ketoacidosis (NDKA). Methods Between May 2018 and April 2020, we prospectively collected children under 18 years who presented with ketoacidosis, defined as ketosis (urinary ketones ≥++ and/or serum β-hydroxybutyrate level ≥3 mmol/L) and met...
Article
Full-text available
Background Glutaric acidemia type 1 (GA1) is an inherited neurometabolic disease with significant morbidity. However, neuro-radiological correlation is not completely understood. Objective The study aimed to characterize the neuroimaging findings and their association with neurological phenotype in GA1 children. Methods Twenty-six Egyptian children...
Article
Full-text available
Objectives To investigate the effectiveness of nebulized magnesium sulfate in treating persistent pulmonary hypertension of newborn (PPHN).Methods Twenty-eight mechanically ventilated term neonates with severe PPHN were randomized into two groups: NebMag group (n = 14), who receiving nebulized isotonic magnesium (1024 mg/h), and IVMag group (n = 14...
Article
Objective Our objective was to investigate the relative frequency and pattern of inborn errors of immunity (IEIs) among Egyptian children with recurrent acute otitis media (rAOM). Methods This was a cross-sectional study that included children from the age of 6 months to 16 years with rAOM. Those with structural, functional, and environmental risk...
Article
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare genetic form of cerebral white matter disease whose clinicoradiologic correlation has not been completely understood. In this study, we investigated the association between clinical and brain magnetic resonance imaging (MRI) features in 22 Egyptian children (median age 7 yea...
Article
Full-text available
Comprising over 1000 signatories representative of multiple stakeholders, including hepatologists, internists, diabetologists, endocrinologists, paediatricians, primary-care providers, nephrologists, cardiologists, pathologists, patient advocates, nurses, nutritionists, and pharmaceutical experts from over 134 countries, we—the undersigned—endorse...
Article
Full-text available
Background Coronavirus disease 2019 (COVID-19) and related isolation measures have substantial adverse economic, social, and psychological consequences and expose children to increased risk of violence. The present study aimed to investigate the impact of the COVID-19 pandemic on violence against children in Egypt. Methods An online survey, in Ara...
Article
Full-text available
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (HMGCS2) deficiency is a metabolic disorder caused by mutations in the HMGCS2 gene. The present study describes the identification of four cases of HMGCS2 deficiency in Japan. Hepatomegaly and severe metabolic acidosis were observed in all cases. Fatty liver was identified in three cases, which...
Article
Full-text available
Background: Faculty development (FD) is a core component of medical education, and needs assessment is central for planning effective FD programs. In the present study, we assessed the perceived development needs of medical faculty and the factors affecting these needs at an Egyptian medical school.Methods: This sequential mixed-methods research wa...
Article
D‐3‐hydroxy‐n‐butyrate dehydrogenase (BDH1; EC 1.1.1.30), encoded by BDH1, catalyzes the reversible reduction of acetoacetate (AcAc) to 3‐hydroxybutyrate (3HB). BDH1 is the last enzyme of hepatic ketogenesis and the first enzyme of ketolysis. The hereditary deficiency of BDH1 has not yet been described in humans. To define the features of BDH1 defi...
Article
Full-text available
We describe the case of a 4‐year‐old boy who suffered from frequent ketotic hypoglycemia (KH) but did not have hepatomegaly or elevated liver enzyme levels. However, the patient was found to have a rare variant in the PHKA2 gene. To detect the underlying disease in this case, we performed a gene panel analysis covering 59 genes that are involved in...
Article
Full-text available
Beta‐ketothiolase (T2, mitochondrial acetoacetyl‐CoA thiolase) deficiency is an autosomal recessive disorder of isoleucine catabolism and ketone body metabolism that is characterized by increased urinary excretion of 2‐methylacetoacetate, 2‐methyl‐3‐hydroxybutyrate, and tiglylglycine. Most patients with T2 deficiency develop their first severe keto...
Article
Beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency (OMIM #203750, *607809) is an inborn error of metabolism that affects isoleucine catabolism and ketone body metabolism. This disorder is clinically characterized by intermittent ketoacidotic crises under ketogenic stresses. In addition to a previous 26-case series, four serie...
Article
Alu elements occupy 10% of the human genome. However, although they contribute to genomic and transcriptomic diversity, their function is still not fully understood. We hypothesized that intronic Alu elements may contribute to alternative splicing. We therefore examined their effect on splicing using minigene constructs including exon 9-exon 11 inc...
Article
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 sibl...
Article
Mitochondrial acetoacetyl-CoA thiolase (T2) (gene symbol: ACAT1) deficiency is an autosomal recessive disorder affecting isoleucine catabolism and ketone body utilization. In this study, mutational analysis of an Indian T2-deficient patient revealed a homozygous mutation (c.121‑13T>A) located at the polypyrimidine tract of the splice acceptor site...
Article
Full-text available
Background: Beta-ketothiolase (T2, gene symbol ACAT1) deficiency is an autosomal recessive disorder, affecting isoleucine and ketone body metabolism. We encountered a patient (GK03) with T2 deficiency whose T2 mRNA level was <10% of the control, but in whom a previous routine cDNA analysis had failed to find any mutations. Genomic PCR-direct sequen...
Article
Full-text available
Beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency is an autosomal recessive disorder characterized by impaired metabolism of ketones and isoleucine. In this study, we report on the first two siblings with T2 deficiency from Libya. Both siblings presented with ketoacidosis, but the severity and outcomes were quite distinctive...
Chapter
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-...
Article
Full-text available
Citrin deficiency, an inherited defect of the liver-type mitochondrial aspartate/glutamate carrier isoform (citrin), may cause impairment of glycolysis because of an increase in the cytosolic NADH/NAD⁺ ratio. We report a Japanese boy whose main complaint was recurrent hypoglycemic episodes. He was suspected as having citrin deficiency because of hi...
Article
Full-text available
Beta-ketothiolase deficiency, also known as mitochondrial acetoacetyl-CoA thiolase (T2) deficiency, is an autosomal recessive disease caused by mutations in the acetyl‑CoA acetyltransferase 1 (ACAT1) gene. A German T2‑deficient patient that developed a severe ketoacidotic episode at the age of 11 months, was revealed to be a compound heterozygote o...
Article
Full-text available
Succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency is an autosomal recessive disorder of ketone body utilization that is clinically characterized with intermittent ketoacidosis crises. We report here the second Turkish case with SCOT deficiency. She experienced 3 ketoacidotic episodes: The first ketoacidotic crisis mimicked diabetic ketoacido...
Article
Full-text available
Beta-ketothiolase deficiency is an inherited disorder of ketone body metabolism and isoleucine catabolism. It typically manifests as recurrent ketoacidotic episodes with characteristic abnormalities in the urinary organic acid profile. However, several challenges in the diagnosis of beta-ketothiolase deficiency have been encountered: atypical prese...
Article
Full-text available
Malformation of Cortical Development (MCD) corresponds to a broad spectrum of cerebral lesions resulting from cortical development abnormalities during embryogenesis. MCD are increasingly recognized as an important cause of epilepsy, especially refractory ones. Aims: Evaluation of pattern and clinical spectrum of MCD. Patients and methods: The data...

Questions

Questions (3)
Question
We have diagnosed a girl with McKusick-Kaufman syndrome (MKS) based on clinical presentation with hydrometrocolpos, polydactyly, and congenital heart disease. We want to confirm the diagnosis at the molecular level, but we do not know where to do this.
Has anyone suggestions about laboratories to perform mutational analysis of MKKS gene? 
Question
Beta-ketothiolase deficiency (T2) is a rare disorder of ketone body metabolism and isoleucine catabolism. In order to gather patients with this disorder, I ask physicians who have suspected patients with beta-ketothiolase deficiency to contact me. 
Question
I want to study the effect of pH changes on enzymatic activity. I want to compare between the activity at pH 7.4, 6.8, 6 and 8. How I can do that. 

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Projects

Project (1)
Project
We are pleased to invite all researchers to contribute to a special research topic (article collection) on "genetics of inborn errors of metabolism", in which I am serving as the guest editor. Please, visit the following link for more details https://www.frontiersin.org/research-topics/34495/genetics-of-inborn-errors-of-metabolism