Selective screening for inborn errors of metabolism by tandem mass spectrometry at Sohag University Hospital, Egypt.

BACKGROUND: Inborn errors of metabolism (IEMs) comprise a group of inherited diseases that can have devastating consequences and cause irreversible damage to different body systems and even lead to death. Newborn screening helps in the presymptomatic diagnosis of many medical disorders including IEMs. Early diagnosis and management of IEMs helps reduce morbidity and mortality. OBJECTIVE: This study aimed to estimate the prevalence of IEMs among at-risk children and contribute toward early diagnosis and management in order to minimize morbidity and mortality. METHODS: This prospective study was conducted at the Pediatrics and Neonatology Department, Sohag University Hospital, Egypt. The study enrolled 308 participants suspected of having IEMs. Cases were included based on the presence of any of the following: unexplained convulsions, persistent metabolic acidosis, persistent hypoglycemia, disturbed consciousness, delayed milestones, or family history of previous sibling death with IEMs or sibling death with a history suggestive of IEMs. All participants in the study were subjected to metabolic screening by tandem mass spectrometry (MS/MS). RESULTS: Out of 308 neonates, 93 (30.2%) were diagnosed with IEMs. The most common diagnosis was phenylketonuria, followed by glutaric aciduria type 1 and maple syrup urine disease (43%, 19.4%, and 14%, respectively). Five patients had Canavan disease, four had medium-chain acyl CoA dehydrogenase deficiency, three had congenital lactic acidosis, two had methylmalonic acidemia, and two had primary carnitine deficiency. Propionic acidemia, isovaleric acidemia, homocystinuria, short-chain acyl CoA dehydrogenase deficiency, B-ketothiolase deficiency, and ketone body utilization defect were diagnosed in one patient each. Most patients improved (73.1%) following proper specific management. CONCLUSION: We recommend newborn screening for IEMs using MS/MS, which may help with the early diagnosis and management of this group of disorders.

The clinico-radiological findings of MSUD in a group of Egyptian children: Contribution to early diagnosis and outcome.

BACKGROUND: Maple syrup urine disease (MSUD) is an autosomal recessive inborn error of amino acid metabolism, with unique clinico-radiological findings. This study aims to show the benefit of using the clinico-radiological findings for early diagnosis of children with MSUD, and confirming this diagnosis using the tandem mass spectrometry (MS/MS), in order to avoid deleterious outcome. METHODS: A prospective cohort study conducted in the period from August 2016 to December 2020. Twenty-one children were included either by selective screening or by high-risk screening. All children had clinical and neurodevelopmental evaluation, brain magnetic resonance imaging (MRI) assessment, and blood amino acids analysis at diagnosis. Patients were followed clinically. RESULTS: Most children had acute onsets neuro-developmental symptoms, with wide range of brain parenchyma involvement on MRI (hyperintensity). Diagnosis of MSUD was confirmed by detecting high serum levels of leucine/isoleucine (mean value 2085.5 µmol/L) in all patients, and elevated levels of serum valine in (81%) of children. In addition, all children showed elevated leucine: alanine ratio, and leucine: phenylalanine ratio. CONCLUSIONS: The characteristic clinico-radiological features can help in the early diagnosis of MSUD children, thus preventing the delay in laboratory diagnosis and improving their outcomes.

Characterization and Outcome of Two Pediatric Intensive Care Units with Different Resources.

BACKGROUND: The pediatric intensive care units (PICUs) in developing countries have a higher mortality outcome due to a wide variety of causes. Identifying differences in the structure, patient characteristics, and outcome between PICUs with different resources may add evidence to the need for incorporating more PICUs with limited resources in the contemporary critical care research to improve the care provided for severely ill children. METHODS: A retrospective study was conducted at Egyptian and Japanese PICUs as examples of resource-limited and resource-rich units, respectively. We collected and compared data of nonsurgical patients admitted between March 2018 and February 2019, including the patients' demographics, diagnosis, PICU length of stay, outcome, predicted risk of mortality using pediatric index of mortality-2 (PIM-2), and functional neurological status using the Pediatric Cerebral Performance Category (PCPC) scale. RESULTS: The Egyptian unit had a lower number of beds with a higher number of annual admission/bed than the Japanese unit. There was a shortage in the number of the skilled staff at the Egyptian unit. Nurse : patient ratios in both units were only similar at the nighttime (1 : 2). Most of the basic equipment and supplies were available at the Egyptian unit. Both actual and PIM-2 predicted mortalities were markedly higher for patients admitted to the Egyptian unit, and the mortality was significantly associated with age, severe sepsis, and PIM-2. The length of stay was shorter at the Egyptian unit. CONCLUSION: The inadequate structure and the burden of more severely ill children at the Egyptian unit appear to be the most important causes behind the higher mortality at this unit. Increasing the number of qualified staff and providing cost-effective equipment may help in improving the mortality outcome and the quality of care.