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Review
. 2021 Nov 5;8(11):1013.
doi: 10.3390/children8111013.

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

Alessia Marcellino  1 , Cristiana Alessia Guido  2 , Silvia Bloise  1 , Saverio Mallardo  1 , Sara Isoldi  1 , Emanuela Del Giudice  1 , Anna Dilillo  1 , Vanessa Martucci  1 , Mariateresa Sanseviero  1 , Donatella Iorfida  1 , Alberto Spalice  2 , Riccardo Lubrano  1
Affiliations
Review

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

Alessia Marcellino et al. Children (Basel). .

Abstract

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.

Keywords: cognitive impairment; growth; methylmalonic acidemia; neurological development; pregnancy; renal transplantation.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Statural–ponderal growth of our case from 2 to 10 years of age, according to CDC 2000 growth chart. Therefore, she started nutrition care visits; she showed mild hyperphagia, short satiation and low daily aerobic physical activity. In the past year she began a hypocaloric balanced diet and her BMI did not increase further. However, her parents did not give consent to obesity genetic tests.
Figure 2
Figure 2
Body mass index of our case from 2 to 10 years of age according to CDC 2000 growth chart.
See this image and copyright information in PMC

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