Assessment of quality of life in families affected by maple syrup urine disease: a cross sectional study.

Objectives: Maple syrup urine disease (MSUD) is considered one of the intoxication-type inborn errors of metabolism (IT-IEM). Patients with MSUD are afflicted with a chronic illness, and the disease and its management have both physical and psychological consequences for the patients and their families. The aim of this study was to assess the quality of life (QoL) and its main determining factors for patients with MSUD and their families under follow-up in Sohag University Hospital.

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.

Amino acid and acylcarnitine profiles in perinatal asphyxia: a case-control study.

Objective: To estimate cord blood amino acid and acylcarnitine levels in term newborns exposed to perinatal asphyxia.

Materials And Methods: We studied 45 asphyxiated term newborns (cases) and 20 gestational age-matched healthy newborns (control). 16 cases developed HIE according to clinical scoring and amplitude-integrated electroencephalography.