Imad Dweikat

Imad Dweikat
Arab American University | AAUJ · Metabolic

MD

About

24
Publications
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293
Citations
Introduction
Imad Dweikat currently works at the Arab American University - Palestine. Imad does research in Metabolic diseases and Pediatrics . Their current project is 'Cyclin and CBS domain divalent metal cation transport mediators (CNNMs) and their cellular partners'.

Publications

Publications (24)
Article
Full-text available
Background Recessive forms of megalencephalic leukoencephalopathy with subcortical cysts (MLC, OMIM 604004) is a rare early-onset leukodystrophy that presents with macrocephaly, seizures, slowly progressive gross motor deterioration, and MRI evidence of diffuse symmetric white matter swelling and subcortical cysts in the anterior temporal and front...
Article
Context The hyperinsulinism/hyperammonemia (HI/HA) syndrome, the second most common form of congenital hyperinsulinism, has been associated to dominant mutations in GLUD1, coding for the mitochondrial enzyme glutamate dehydrogenase, that increase enzyme activity by reducing its sensitivity to allosteric inhibition by GTP. Objective To identify the...
Article
Full-text available
Background Niemann–Pick disease type C (NPC) is an autosomal recessive, neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes. Mutations in these genes are associated with abnormal endosomal–lysosomal trafficking, resulting in the accumulation of tissue-specific lipids in lysosomes. Methods We described sixteen patients wi...
Article
Full-text available
Background Tyrosinemia type 1 (hepatorenal tyrosinemia, HT1) is a rare autosomal recessive inborn error of tyrosine metabolism caused by deficiency of the last enzyme in the tyrosine catabolic pathway, fumarylacetoacetate hydrolase (FAH) leading to severe hepatic, renal and peripheral nerve damage if left untreated. Early treatment may prevent acut...
Article
Background and aims Glutathione synthetase deficiency (GSSD) is an autosomal recessive disorder described in the literature in roughly 80 patients. Currently, there is little known about genotype-phenotype correlations in GSSD though severity can be predicted to a limited extent via mutation analysis. Here, we describe four patients with GSSD and a...
Article
Objective To identify the genetic basis of a childhood-onset syndrome of variable severity characterised by progressive spinocerebellar ataxia, mental retardation, psychotic episodes and cerebellar atrophy. Methods Identification of the underlying mutations by whole exome and whole genome sequencing. Consequences were examined in patients’ cells a...
Conference Paper
Phenotypic and Genetic Heterogeneity Linked to the Magnesium Transport Mediator CNNM2 Reham Khalaf-Nazzal1*, Paula Giménez-Mascarell2, Imad M. Dweikat3, 4, Iker Oyenarte2, Dominik Müller5, Félix Claverie-Martín6 and Luis Alfonso Martínez-Cruz2 1 Faculty of Medicine and Health Sciences, An-Najah National University, Physiology, Pharmacology, and Tox...
Article
Introduction: Glycine encephalopathy (GE), also known as non-ketotic hyperglycinemia (NKH), is a rare inborn error of glycine metabolism caused by a defect in glycine cleavage system, a multi-enzyme complex located in mitochondrial membrane. This defect results in elevated glycine concentration in plasma and cerebrospinal fluid (CSF). Clinical man...
Article
Full-text available
Nephrogenic diabetes insipidus (NDI) is a urinary concentrating defect resulting from resistance of the collecting duct to the antidiuretic action of vasopressin (AVP). The X-linked recessive form is the most frequent genetic cause of inherited NDI and can be caused by mutations in the gene encoding the V2 vasopressin receptor (AVPR2). A Palestinia...
Conference Paper
Full-text available
Background: Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal disorder caused by mutations in ARSA gene resulting in a deficiency of the enzyme arylsulfatase A (ASA). The late-infantile variant of MLD is the most frequent and severe phenotype. The aim of the study is to report a novel mutation in ARSA further expanding the geno...
Article
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Background Fanconi-Bickel syndrome (FBS, OMIM 227810) is a rare autosomal recessive disease caused by a deficiency of glucose transporter 2 (GLUT2), a member of the facilitative glucose transporter family (Santer et al. J Inherit Metab Dis 21:191–194, 1998). The typical clinical picture is characterized by hepatorenal glycogen accumulation resultin...
Article
Full-text available
Meckel’s diverticulum (MD) is the most common congenital anomaly of the gastrointestinal (GI) tract affecting about 2% of the populations. Gastrointestinal bleeding is a common presentation in pediatric and can be massive. The diagnosis of symptomatic MD is often difficult to make. We report on a 7-year-old boy who suffered from recurrent severe GI...
Article
Full-text available
Background Celiac disease (CD) is a complex autoimmune disorder that can lead to an inflammatory small intestinal villous atrophy and malabsorption.Hartnup disease is an autosomal recessive disorder caused by increased urinary excretion of neutral amino acids. Co-occurrence of Hartnup disease and CD is extremely rare with only a single case reporte...
Article
Full-text available
Leukoencephalopathy refers to any disease of the white matter including hereditary as well as acquired and toxic causes. Inherited leukodystrophies are diseases of myelin including abnormal myelin development, hypomyelination, or degeneration of myelin. We report a 6-year old female who presented with absence seizure at the age of 4 years. Cerebral...
Article
Ethylmalonic encephalopathy (EE) is a rare autosomal recessive disorder caused by mutations in the ETHE1 gene and characterized by chronic diarrhea, encephalopathy, relapsing petechiae and acrocyanosis. Nephrotic syndrome has been described in an infant with EE but the renal histology findings were not described in previous reports. We report a Pal...
Article
Propionic acidemia manifesting with hyperglycemia is rare. Few cases have been reported mainly of the neonatal-onset form associated with high mortality. We report a 9-month-old Palestinian boy who manifested with coma, severe hyperglycemia and ketoacidosis mimicking diabetic ketoacidosis. Family history of unexplained infant deaths was helpful in...
Article
A 7-month old girl with GM1 gangliosidosis type 1 manifested with diffuse ecchymosis and Mongolian spots. The cutaneous lesions were present at birth before the appearance of the other features of the disease. We postulate that dermal pigmentation may be recognized as an early sign of GM1 gangliosidosis.
Article
Full-text available
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a mitochondrial matrix sulfur dioxygenase, leading to failure to detoxify sulfide, a product of intestinal anaerobes and, in trace amounts, tissues. Metronidazole, a bactericide, or N-acetylcysteine, a precursor of sulfide-buffering glutathione, substantially prolonged the lifespan of Eth...
Article
Glutaric aciduria type 1 (GA1) is a rare cerebral organic aciduria which typically manifests as an acute encephalopathic crisis followed by profound long-term neurological handicap. We report the diagnosis of 12 new patients from a single laboratory in Israel during a 5-year period. Eleven of the 12 were of Palestinian origin, and only two were rel...
Article
We report on a female infant with congenital iron storage disease, facial dysmorphism, intractable diarrhea, and hair abnormalities. The intractable diarrhea failed to resolve despite total parenteral nutrition and complete bowel rest for more than 3 weeks. The patient also had elevated liver enzymes and failure to thrive. Histopathologic examinati...
Article
Carnitine-acylcarnitine translocase (CACT) deficiency is a rare disorder of fatty acid oxidation associated with high mortality. Two female newborns of different ethnic origin (the first Anglo-Celtic and the second Palestinian Arab) both died after sudden collapse on day 2 of life. Both had elevated bloodspot long-chain acylcarnitines consistent wi...

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Projects

Projects (3)
Project
This is a collaborative translational medicine project that aims at enhancing diagnosis and medical care for a large group of Palestinian patients identified in one village. We work with local clinicians, medical research team at Exeter University Medical School, and and Alstrom Global to tackle disease burden on affected patients and the wider community,