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

Abstract 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 th...

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Autores principales:	Montaser M. Mohamed, Mohamed A. Bakheet, Rofaida M. Magdy, Heba S. El‐Abd, Mohamad Hasan Alam‐Eldeen, Hany M. Abo‐Haded
Formato:	article
Lenguaje:	EN
Publicado:	Wiley 2021
Materias:	clinico‐radiological diagnosis Egypt MSUD outcome Genetics QH426-470
Acceso en línea:	https://doaj.org/article/e583ea460e0b4f1b93c1b076ff657494
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spelling	oai:doaj.org-article:e583ea460e0b4f1b93c1b076ff6574942021-11-10T16:39:23ZThe clinico‐radiological findings of MSUD in a group of Egyptian children: Contribution to early diagnosis and outcome2324-926910.1002/mgg3.1790https://doaj.org/article/e583ea460e0b4f1b93c1b076ff6574942021-10-01T00:00:00Zhttps://doi.org/10.1002/mgg3.1790https://doaj.org/toc/2324-9269Abstract 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.Montaser M. MohamedMohamed A. BakheetRofaida M. MagdyHeba S. El‐AbdMohamad Hasan Alam‐EldeenHany M. Abo‐HadedWileyarticleclinico‐radiologicaldiagnosisEgyptMSUDoutcomeGeneticsQH426-470ENMolecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	clinico‐radiological diagnosis Egypt MSUD outcome Genetics QH426-470
spellingShingle	clinico‐radiological diagnosis Egypt MSUD outcome Genetics QH426-470 Montaser M. Mohamed Mohamed A. Bakheet Rofaida M. Magdy Heba S. El‐Abd Mohamad Hasan Alam‐Eldeen Hany M. Abo‐Haded The clinico‐radiological findings of MSUD in a group of Egyptian children: Contribution to early diagnosis and outcome
description	Abstract 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.
format	article
author	Montaser M. Mohamed Mohamed A. Bakheet Rofaida M. Magdy Heba S. El‐Abd Mohamad Hasan Alam‐Eldeen Hany M. Abo‐Haded
author_facet	Montaser M. Mohamed Mohamed A. Bakheet Rofaida M. Magdy Heba S. El‐Abd Mohamad Hasan Alam‐Eldeen Hany M. Abo‐Haded
author_sort	Montaser M. Mohamed
title	The clinico‐radiological findings of MSUD in a group of Egyptian children: Contribution to early diagnosis and outcome
title_short	The clinico‐radiological findings of MSUD in a group of Egyptian children: Contribution to early diagnosis and outcome
title_full	The clinico‐radiological findings of MSUD in a group of Egyptian children: Contribution to early diagnosis and outcome
title_fullStr	The clinico‐radiological findings of MSUD in a group of Egyptian children: Contribution to early diagnosis and outcome
title_full_unstemmed	The clinico‐radiological findings of MSUD in a group of Egyptian children: Contribution to early diagnosis and outcome
title_sort	clinico‐radiological findings of msud in a group of egyptian children: contribution to early diagnosis and outcome
publisher	Wiley
publishDate	2021
url	https://doaj.org/article/e583ea460e0b4f1b93c1b076ff657494
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The clinico‐radiological findings of MSUD in a group of Egyptian children: Contribution to early diagnosis and outcome

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