Newborn screening for galactosaemia

Lak, Rohollah; Yazdizadeh, Bahareh; Davari, Majid; Nouhi, Mojtaba; Kelishadi, Roya

doi:10.1002/14651858.cd012272.pub2

Cited by 15 publications

(20 citation statements)

References 18 publications

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“…It was shown to significantly reduce galactosemia‐related deaths, especially in the neonatal period (Ohlsson et al, 2012), however there is no controlled study in the literature reporting that it can prevent long‐term complications. (Schweitzer‐Krantz, 2003; Lak et al, 2017). Coss et al reported a series of 130 patients, 93.8% of which diagnosed by newborn screening and diet therapy initiated immediately.…”

Section: Discussionmentioning

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: Discussionmentioning

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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“…Up to now, the impact of newborn screening on the long-term outcome in galactosemia is still unclear. However, descriptive studies show its impact on mortality and acute symptomatology by favoring an early onset of nutritional management especially if results are available within the first week of life [87][88][89]. Moreover, early detection could have an effect on patient's quality of life.…”

Section: Newborn Screeningmentioning

confidence: 99%

Advances and Challenges in Classical Galactosemia. Pathophysiology and Treatment

Cornejo

Morales

et al. 2022

J. inborn errors metab. screen.

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Classical galactosemia is caused by the genetic deficiency of galactose-1-phosphate-urydyl-transferase resulting in clinical symptoms development during the first weeks of life including jaundice, hypotonia, lethargy, emesis, hepatomegaly, among others. Currently, dietary restriction of galactose is considered the standard for classical galactosemia management. For several years, severe dietary galactose restriction was considered necessary, implying restriction not only of dairy products, but also fruits, vegetables, legumes, and viscera. Such management failed to improve or prevent the appearance of long-term complications, by contrast, such restrictive approach may lead to nutritional deficiencies development. Thus, the last consensus suggests guidelines that are more flexible. In addition, the lack of knowledge regarding the physiopathology of the disease, and the toxicity threshold of the metabolites accumulated, make even more difficult to propose novel and more effective therapeutic approaches. This review summarizes the current state of knowledge regarding classical galactosemia in terms of physiopathology, long-term complications, newborn screening and genetic variants and their implications on galactosemia treatment, summed to the challenges that researchers working on this disease must address in future studies including the analysis of galactose content in foods, galactose tolerance threshold and search for novel therapeutic targets.

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“…Однако, несмотря на быстрое получение результатов неонатального скрининга, течение галактоземии может иметь раннюю манифестацию или приобретать злокачественный характер; кроме того, у недоношенных новорожденных клиническая симптоматика на начальном этапе весьма неспецифична. Следовательно, в части клинических случаев своевременная диагностика заболевания может представлять значительные трудности [26].…”

Section: клинические случаиunclassified

Severe galactosemia of type 1 in a premature baby: difficulties of differential diagnosis

Nikitina

Амелин

Махмудов

et al. 2020

Ross. vestn. perinatol. pediatr.

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Г алактоземия-генетически обусловленное заболевание, связанное с нарушением обмена углеводов, при котором в организме накапливается избы-ток галактозы и ее метаболитов (галактозо-1-фосфата и галактитола). Тип наследования заболеванияаутосомно-рецессивный [1].

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Newborn screening for galactosaemia

Cited by 15 publications

References 18 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

Advances and Challenges in Classical Galactosemia. Pathophysiology and Treatment

Severe galactosemia of type 1 in a premature baby: difficulties of differential diagnosis

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