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BackgroundOrganic acidurias are a group of inborn errors of metabolism. They present a significant diagnostic challenge and are associated with serious morbidity and mortality. They are considered the most frequent inborn errors of metabolism among high‐risk children. Gas chromatography–mass spectrometry is a reliable diagnostic technique for organic acidurias.This hospital‐based study aimed to quantify the frequency of organic acidurias among a group of high‐risk Egyptian pediatric patients and to highlight the importance of high‐risk screening for such disorders.MethodsOne hundred and fifty high‐risk children who presented to the inherited metabolic disease unit and the pediatric intensive care units of Cairo University Children Hospital were tested for urine organic acids using gas chromatography–mass spectrometry.ResultsThirty percent (45/150) of the patients were confirmed as having an altered organic acids profile. Neurological manifestations were the most common presentation. Glutaric aciduria type I and maple‐syrup urine disease were the most common disorders encountered among the group that was studied.ConclusionOrganic acid detection by gas chromatography–mass spectrometry is key to the diagnosis of many metabolic disorders. Until a national expanded newborn screening program is established, high‐risk screening is strongly encouraged for the early detection of, and proper intervention for such disorders among Egyptian children.

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Background Diabetic retinopathy (DR) and diabetic macular edema (DME) are the leading causes of blindness in patients with diabetes. Increasing numbers of people with diabetes worldwide suggest that DR and DME will continue to be major contributors to vision loss and associated functional impairment for years to come. Oxidative stress is a key participant in the development and progression of diabetes mellitus (DM) and its complications. Antioxidant status can affect vulnerability to oxidative damage, onset and progression of diabetes, and complications of diabetes. Manganese superoxide dismutase (Mn-SOD) is a key mitochondrial enzyme in cell defense against reactive oxygen species (ROS). DR and progression to DME have been associated with polymorphism in the second exon of the Mn-SOD gene at the 16th amino acid (Ala16Val) in the mitochondrial targeting sequence (MTS) of the protein. The study aimed to investigate the association between Ala16Val Mn-SOD gene polymorphism and the susceptibility to DR and DME in type 2 DM (T2DM). Results In this study, 150 patients with type 2 DM were enrolled: 100 patients with DR with and without diabetic macular edema (DME) and 50 patients with type 2 diabetes with a duration of 10 years without DR. Ala16Val SNP of the Mn-SOD gene (rs4880) was detected by TaqMan real-time PCR. The results showed that the homozygous polymorphic variant VV between the DME group is significantly higher than the non-DME group (P 0.018) among the DR group. Conclusion Mn SOD A16V polymorphism itself may not be associated with DR; meanwhile, it may be implicated in the pathogenesis of DME.

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