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

Autor: Mohamed MM; Pediatric Neurology Unit, Department of Pediatrics, Faculty of Medicine, Sohag University, Sohag, Egypt., Bakheet MA; Pediatric Cardiology Unit, Department of Pediatrics, Faculty of Medicine, Sohag University, Sohag, Egypt., Magdy RM; Metabolic and Genetic Unit, Department of Pediatrics, Faculty of Medicine, Sohag University, Sohag, Egypt., El-Abd HS; Department of Medical Genetics, Faculty of Medicine, Ain Shams University, Cairo, Egypt., Alam-Eldeen MH; Department of Radiology, Faculty of Medicine, Sohag University, Sohag, Egypt., Abo-Haded HM; Pediatric Cardiology Unit, Department of Pediatrics, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
Jazyk: angličtina
Zdroj: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Oct; Vol. 9 (10), pp. e1790. Date of Electronic Publication: 2021 Aug 25.
DOI: 10.1002/mgg3.1790
Abstrakt: 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.
(© 2021 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)
Databáze: MEDLINE
Externí odkaz:
Nepřihlášeným uživatelům se plný text nezobrazuje