Physical and Neurological Development of a Girl Born to a Mother with Methylmalonic Acidemia and Kidney Transplantation and Review of the Literature

Background: actual literature suggests that children of methylmalonic acidemia patients are mostly healthy, but data are only partial, especially regarding long-term outcome. Therefore, our aim was to evaluate the possible long-term neurological effects of fetal exposure to high levels of methylmalo...

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Autores principales:	Alessia Marcellino, Cristiana Alessia Guido, Silvia Bloise, Saverio Mallardo, Sara Isoldi, Emanuela Del Giudice, Anna Dilillo, Vanessa Martucci, Mariateresa Sanseviero, Donatella Iorfida, Alberto Spalice, Riccardo Lubrano
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	methylmalonic acidemia cognitive impairment pregnancy growth neurological development renal transplantation Pediatrics RJ1-570
Acceso en línea:	https://doaj.org/article/40587a479b0e428698da10bf65b8d3fe
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spelling	oai:doaj.org-article:40587a479b0e428698da10bf65b8d3fe2021-11-25T17:14:32ZPhysical and Neurological Development of a Girl Born to a Mother with Methylmalonic Acidemia and Kidney Transplantation and Review of the Literature10.3390/children81110132227-9067https://doaj.org/article/40587a479b0e428698da10bf65b8d3fe2021-11-01T00:00:00Zhttps://www.mdpi.com/2227-9067/8/11/1013https://doaj.org/toc/2227-9067Background: actual literature suggests that children of methylmalonic acidemia patients are mostly healthy, but data are only partial, especially regarding long-term outcome. Therefore, our aim was to evaluate the possible long-term neurological effects of fetal exposure to high levels of methylmalonic acid in a child of a renal transplant recipient. Methods: we retrospectively evaluated the clinical and neurological records of a girl whose mother is a kidney transplant recipient affected by methylmalonic acidemia. Subsequently, we compared our results with the ones already published. Results: the girl’s weight and stature were within the normal range in the first years of life but, starting from 4 years of age, she became progressively overweight. Regarding the neurodevelopment aspects, for the first time we performed a complete and seriated neuropsychological evaluation, highlighting a mild but significant weakness in the verbal domain, with a worsening trend at three-year revaluation. Conclusions: since children of MMA patients are exposed to methylmalonic acid, the efforts of the physicians caring for these children should be directed on careful evaluation of growth, prevention of obesity and regular neurological examination together with structured neuropsychological tests to achieve a better insight in possible complications of pregnancy in patients suffering from this condition.Alessia MarcellinoCristiana Alessia GuidoSilvia BloiseSaverio MallardoSara IsoldiEmanuela Del GiudiceAnna DililloVanessa MartucciMariateresa SansevieroDonatella IorfidaAlberto SpaliceRiccardo LubranoMDPI AGarticlemethylmalonic acidemiacognitive impairmentpregnancygrowthneurological developmentrenal transplantationPediatricsRJ1-570ENChildren, Vol 8, Iss 1013, p 1013 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	methylmalonic acidemia cognitive impairment pregnancy growth neurological development renal transplantation Pediatrics RJ1-570
spellingShingle	methylmalonic acidemia cognitive impairment pregnancy growth neurological development renal transplantation Pediatrics RJ1-570 Alessia Marcellino Cristiana Alessia Guido Silvia Bloise Saverio Mallardo Sara Isoldi Emanuela Del Giudice Anna Dilillo Vanessa Martucci Mariateresa Sanseviero Donatella Iorfida Alberto Spalice Riccardo Lubrano Physical and Neurological Development of a Girl Born to a Mother with Methylmalonic Acidemia and Kidney Transplantation and Review of the Literature
description	Background: actual literature suggests that children of methylmalonic acidemia patients are mostly healthy, but data are only partial, especially regarding long-term outcome. Therefore, our aim was to evaluate the possible long-term neurological effects of fetal exposure to high levels of methylmalonic acid in a child of a renal transplant recipient. Methods: we retrospectively evaluated the clinical and neurological records of a girl whose mother is a kidney transplant recipient affected by methylmalonic acidemia. Subsequently, we compared our results with the ones already published. Results: the girl’s weight and stature were within the normal range in the first years of life but, starting from 4 years of age, she became progressively overweight. Regarding the neurodevelopment aspects, for the first time we performed a complete and seriated neuropsychological evaluation, highlighting a mild but significant weakness in the verbal domain, with a worsening trend at three-year revaluation. Conclusions: since children of MMA patients are exposed to methylmalonic acid, the efforts of the physicians caring for these children should be directed on careful evaluation of growth, prevention of obesity and regular neurological examination together with structured neuropsychological tests to achieve a better insight in possible complications of pregnancy in patients suffering from this condition.
format	article
author	Alessia Marcellino Cristiana Alessia Guido Silvia Bloise Saverio Mallardo Sara Isoldi Emanuela Del Giudice Anna Dilillo Vanessa Martucci Mariateresa Sanseviero Donatella Iorfida Alberto Spalice Riccardo Lubrano
author_facet	Alessia Marcellino Cristiana Alessia Guido Silvia Bloise Saverio Mallardo Sara Isoldi Emanuela Del Giudice Anna Dilillo Vanessa Martucci Mariateresa Sanseviero Donatella Iorfida Alberto Spalice Riccardo Lubrano
author_sort	Alessia Marcellino
title	Physical and Neurological Development of a Girl Born to a Mother with Methylmalonic Acidemia and Kidney Transplantation and Review of the Literature
title_short	Physical and Neurological Development of a Girl Born to a Mother with Methylmalonic Acidemia and Kidney Transplantation and Review of the Literature
title_full	Physical and Neurological Development of a Girl Born to a Mother with Methylmalonic Acidemia and Kidney Transplantation and Review of the Literature
title_fullStr	Physical and Neurological Development of a Girl Born to a Mother with Methylmalonic Acidemia and Kidney Transplantation and Review of the Literature
title_full_unstemmed	Physical and Neurological Development of a Girl Born to a Mother with Methylmalonic Acidemia and Kidney Transplantation and Review of the Literature
title_sort	physical and neurological development of a girl born to a mother with methylmalonic acidemia and kidney transplantation and review of the literature
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/40587a479b0e428698da10bf65b8d3fe
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Physical and Neurological Development of a Girl Born to a Mother with Methylmalonic Acidemia and Kidney Transplantation and Review of the Literature

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