Noora Shahbeck

TL;DR: Clinical exome sequencing, which already has the highest diagnostic yield among all available diagnostic tools in the setting of Mendelian disorders, appears to be particularly helpful diagnostically in the highly consanguineous Middle Eastern population.

TL;DR: In this paper, a clinical cohort of 149 probands from Qatar with suspected Mendelian, mainly neurocognitive phenotypes, underwent clinical exome sequencing (CES) from July 2012 to June 2014.

TL;DR: Glutamine deficiency with hyperammonemia due to an inherited defect of glutamine synthetase (GS) was found in a 2 year old patient and he presented neonatal seizures and developed chronic encephalopathy.

TL;DR: The clinical features of an additional 13 patients from consanguineous Middle Eastern families with recessive mutations in MICU1 presented with developmental delay, learning disability, muscle weakness and easy fatigability, and failure to thrive, as well as additional variable features that help to better define the clinical sequelae ofMICU1 deficiency.

TL;DR: In this article, the authors describe a therapeutic trial consisting of enteral and parenteral glutamine supplementation in a four year old patient with GS deficiency, which was monitored clinically, biochemically, and by studies of the electroencephalogram (EEG) as well as by brain magnetic resonance imaging and spectroscopy.