COA 6/C1ORF31 is involved in cytochrome c oxidase (complex IV) biogenesis. We present
a new pathogenic COA 6 variant detected in a patient with neonatal hypertrophic …

Lysosomal storage disorders (LSD) are rare entities of recessive inheritance. The presence
of a “founder” mutation in isolated communities with a high degree of consanguinity (eg, …

Background Phenylketonuria (PKU) is often considered as the classical example of a genetic
disorder in which severe symptoms can nowadays successfully be prevented by early …

Background This study reports on the use of whole exome sequencing (WES) to diagnose
children with inborn errors of metabolism and other disorders in United Arab Emirates. …

Opsismodysplasia is a rare, autosomal-recessive skeletal dysplasia characterized by short
stature, characteristic facial features, and in some cases severe renal phosphate wasting. We …

Objectives: This study aimed to determine the mutation spectrum and prevalence of inborn
errors of metabolism (IEM) among Emiratis. Methods: The reported mutation spectrum …

This study reports on the inborn errors of metabolism (IEM) detected by our national newborn
screening between 2011 and 2014. One hundred fourteen patients (55 UAE citizens and …

Phenylketonuria (PKU) management is aimed at preventing neurocognitive and psychosocial
dysfunction by keeping plasma phenylalanine concentrations within the recommended …

Isovaleric acidemia (IVA) is an autosomal recessive inborn error of leucine metabolism
caused by deficiency of mitochondrial isovaleryl-CoA dehydrogenase (IVD). Accumulation of …

Inborn errors of metabolism (IEM) are frequently encountered by physicians in the United
Arab Emirates (UAE). However, the mutations underlying a large number of these disorders …