Consensus on the guidelines for the dietary management of classical galactosemia

Kerckhove, K. Vande; Diels, M.; Vanhaesebrouck, Sigrid; Luyten, K.; Pyck, Nancy; Meyer, A. De; Driessche, Marleen Van den; Robert, M.; Corthouts, K.; Caris, Ariane; Duchateau, Emilie; Dassy, Martine; Bihet, Genevieve

doi:10.1016/j.clnme.2014.10.001

Cited by 7 publications

(11 citation statements)

References 8 publications

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“…After full-text screening of the remaining 135 articles, 34 articles were selected for this scoping review: 11 primary studies, [23][24][25][26][27][28][29][30][31][32][33] 11 literature reviews, [34][35][36][37][38][39][40][41][42][43][44] 7 systematic reviews [45][46][47][48][49][50][51] and 5 articles of other research types (conference proceedings and case report). [52][53][54][55][56] A total of 11 studies (32%) were primary studies, including three RDs…”

Section: Selection Of Studiesmentioning

confidence: 99%

Diet therapy in patients with rare diseases: a scoping review

Liu

Chen

Zhong

et al. 2023

J Human Nutrition Diet

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Background This scoping review presents existing research evidence regarding diet therapy in patients with rare diseases (RDs). Methods Using the five‐stage scoping review framework proposed by Arksey, O'Malley and Levac, we searched the published literature in PubMed, Web of Science, Royal Society of Chemistry, China National Knowledge Infrastructure, VIP Database and Wan Fang Database from January 2010 to November 2022. We selected diet therapy studies on 121 RDs, as categorised by the National Health Commission of China in 2018. Charts for research analysis were developed and used to categorise the data. Results We ultimately included 34 diet therapy studies from 19 countries and territories for 10 RDs and 3 RD groups. RD diet therapy studies have mainly focused on inborn errors of metabolism (92.3%) and are common in Western countries. Most studies focused on diet therapy methods for RDs (44%). In addition, 29% of studies included diet therapy management, 15% included guidelines for diet therapy and 12% included the impact of diet therapy on patients. Conclusions Current diet therapies for RDs lack specificity and present with limited characteristics. Therefore, it is necessary to expand the scope and depth of future research and explore evidence‐based recommendations and new diet therapies focused on patient needs and family support to provide a reference for improving the efficacy and safety of diet therapies for RDs.

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Section: Selection Of Studiesmentioning

confidence: 99%

Diet therapy in patients with rare diseases: a scoping review

Liu

Chen

Zhong

et al. 2023

J Human Nutrition Diet

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“…GALT converts galactose-1-phosphate (Gal-1-P) and uridine diphosphate glucose (UDP-Glc) to uridine diphosphate galactose (UDP-Gal) and glucose-1-phosphate (Glc-1-P) (Figure 1). Upon consumption of lactose, the affected infants develop life-threatening complications with multiorgan involvement, including feeding intolerance, failure to thrive, hepatic failure, sepsis, prolonged jaundice, hemolytic anemia, renal Fanconi syndrome, cataract, and bleeding, which can be prevented or reverted by implementation of lactose/galactose-restricted diet, justifying the newborn screening for this condition [3,4]. However, despite early intervention, patients with classic galactosemia may still be at risk of long-term diet-independent complications, including developmental delay, cognitive impairment, speech problems, neurological and/or movement disorders, and ovarian dysfunction in females [5][6][7][8][9].…”

Section: Classic Galactosemia and Its Clinical And Biochemical Variantsmentioning

confidence: 99%

Newborn Screening for Classic Galactosemia: Biochemical Testings, Challenges, and Future

Hong¹,

He²

2022

OBM Genet

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Galactosemia is a group of hereditary disorders of galactose metabolism. Newborn screening for galactosemia type I is mandatory in all states in the US since timely intervention can prevent life-threatening sequela. The biochemical basis, clinical presentation, and potential treatment options for different types of galactosemia are described. This review has a focus on the screening methodologies, including the principle of the assay, the transition from the initial bacteria inhibition test to the modern fluorometry test, and their respective advantages and disadvantages especially regarding specificity and sensitivity. Diagnosis can be confirmed by biochemical and/or molecular testing. Although newborn screening for classic galactosemia is highly successful, the high false-positive rate and long-term complications in treated galactosemia patients continue to pose some challenges. We are proposing a newborn screening follow-up testing algorithm to assist screening and differentiating four different forms of galactosemia including the most recently described galactosemia type IV. In the near future, we predict that liquid chromatography tandem mass spectrometry may become a new platform for galactosemia screening, due to its multiplexing capability. In-depth parallel sequencing may be integrated in newborn screening algorithm to confirm diagnoses and further reduce false-positive rate.

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“…In some cases, dietary intake of galactose is not quantified and vegetables are allowed in the diet arguing that it would prevent nutritional deficiencies that could arise from restricting such foods. On the other hand, some management centers indicate specific limits for dietary galactose intake that may vary according to the criteria of each professional [61][62][63]. Nevertheless, neither early and strict galactose restriction (dairy and non-dairy galactose restriction), nor adherence to diet seem to prevent the appearance of chronic complications [11,17,62].…”

Section: Treatment and Outcome Looking For A Novel Therapeutic Approachmentioning

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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Consensus on the guidelines for the dietary management of classical galactosemia

Cited by 7 publications

References 8 publications

Diet therapy in patients with rare diseases: a scoping review

Diet therapy in patients with rare diseases: a scoping review

Newborn Screening for Classic Galactosemia: Biochemical Testings, Challenges, and Future

Advances and Challenges in Classical Galactosemia. Pathophysiology and Treatment

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