Galactosemia: genotipo y fenotipo de siete pacientes

Martins, Esmeralda; Teixeira, João; Ml, Cardoso; Mr, Lima; Briones-Godino, P; Barbot, Clara

doi:10.33588/rn.3812.2002564

Cited by 3 publications

(1 citation statement)

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“…Life‐threatening symptoms develop after exposure to breast milk or to formula containing galactose; symptoms rapidly resolve if a galactose‐restricted diet is implemented in the acute phase (Welling et al, 2017a, 2017b; Coelho et al, 2017). Although the effect of early treatment on neonatal symptoms is indisputable (Coss et al, 2013; Berry, 2017), the long‐term outcome is less certain and serious complications such as developmental delay (Waggoner et al, 1990; Martins et al, 2004), neurological abnormalities (Kaufman et al, 1995; Ridel et al, 2005; Bosch, 2006), and neuroradiological findings (Nelson et al, 1992; Timmers et al, 2015a, 2016) may be observed despite dietary control. Clinically, long‐term neurological disturbances in CG include slower information processing, memory and executive dysfunction, mathematical learning difficulties, visuospatial abnormalities, and speech and movement disorders (Doyle et al, 2010; Timmers et al, 2016).…”

Section: Introductionmentioning

confidence: 99%

Early neurological complications in children with classical galactosemia and p.gln188arg mutation

Özgün¹,

Çelik²,

Akdeniz³

et al. 2019

Intl J of Devlp Neuroscience

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Background Despite implementation of a controlled diet, children with classical galactosemia (CG) may develop a variety of developmental and cognitive problems. In this study, we examined the early developmental status of, as well as the neurological and neuroradiological findings for, children with CG. Methods We retrospectively evaluated 46 galactosemia patients who were followed between 2003 and 2017. We included those who exhibited CG and p.gln188arg homozygous mutation without concomitant disease and who had undergone detailed neurological examination, brain magnetic resonance imaging (MRI), and Denver II developmental testing. Results The mean ages at the time of the most recent neurological examination and Denver II testing were 48.5 ± 28.5 months and 34.4 ± 18.2 months, respectively. Developmental delay was defined as developmental age ≥ 20% lower than chronological age. The results were normal in 25 patients and delayed ≥ 20% in least in one domain, primarily in language development, in 21 patients. Brain MRI was abnormal in 22 patients. Conclusions This analysis of the youngest children with the same genetic mutation reported thus far showed that, despite treatment, developmental delays and abnormalities on brain MRI may begin at an early age.

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Section: Introductionmentioning

confidence: 99%

Early neurological complications in children with classical galactosemia and p.gln188arg mutation

Özgün¹,

Çelik²,

Akdeniz³

et al. 2019

Intl J of Devlp Neuroscience

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Brain function in classic galactosemia, a galactosemia network (GalNet) members review

Panis,

Vos,

Barić

et al. 2024

Front. Genet.

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Classic galactosemia (CG, OMIM #230400, ORPHA: 79,239) is a hereditary disorder of galactose metabolism that, despite treatment with galactose restriction, affects brain function in 85% of the patients. Problems with cognitive function, neuropsychological/social emotional difficulties, neurological symptoms, and abnormalities in neuroimaging and electrophysiological assessments are frequently reported in this group of patients, with an enormous individual variability. In this review, we describe the role of impaired galactose metabolism on brain dysfunction based on state of the art knowledge. Several proposed disease mechanisms are discussed, as well as the time of damage and potential treatment options. Furthermore, we combine data from longitudinal, cross-sectional and retrospective studies with the observations of specialist teams treating this disease to depict the brain disease course over time. Based on current data and insights, the majority of patients do not exhibit cognitive decline. A subset of patients, often with early onset cerebral and cerebellar volume loss, can nevertheless experience neurological worsening. While a large number of patients with CG suffer from anxiety and depression, the increased complaints about memory loss, anxiety and depression at an older age are likely multifactorial in origin.

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Errores innatos metabólicos en parálisis cerebral. Estudio en 174 infantes

Sánchez

2020

Rev Digit Postgrado

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Introducción: La Parálisis Cerebral (PC) es un conjunto de alteraciones motrices no progresivas en la población infantojuvenil, ocasionadas por lesión –a nivel cerebral- de neuronas o fibras de esa vía, de sus aferencias o de las que la modulan; para su diagnóstico deben conocerse otras patologías también frecuentes y que pueden incidir simultánea o causalmente en la motricidad del paciente; la resultante sería disfunción motora tanto voluntaria como involuntaria, refleja o con propósito, de la postura y/o del tono muscular. Objetivo: detectar errores innatos metabólicos (EIM) que causan o se asocian con PC en una serie significativa. Métodos: Estudio descriptivo-interpretativo, se revisaron los expedientes clínicos del Centro de Parálisis Cerebral de Caracas, en cuyos diagnósticos se presentaron ambas alteraciones, entre los años 1988 y 2018. Resultados: De las 2.000 historias clínicas revisadas, el exámen clínico y las pruebas de laboratorio permitieron seleccionar 174 casos de EIM. Conclusiones: Se tipificaron los errores innatos metabólicos en diez formas clínicas distintas, se evidenciaron en pacientes con PC atendidos en un centro público de Caracas, es posible que la casuística sea varias veces mayor en Venezuela dado que ya no se aplica la pesquisa en los centros de atención pública.

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Galactosemia: genotipo y fenotipo de siete pacientes

Cited by 3 publications

References 0 publications

Early neurological complications in children with classical galactosemia and p.gln188arg mutation

Early neurological complications in children with classical galactosemia and p.gln188arg mutation

Brain function in classic galactosemia, a galactosemia network (GalNet) members review

Errores innatos metabólicos en parálisis cerebral. Estudio en 174 infantes

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