International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow‐up

Abstract

Classical galactosemia (CG) is an inborn error of galactose metabolism. Evidence-based guidelines for the treatment and follow-up of CG are currently lacking, and treatment and follow-up have been demonstrated to vary worldwide. To provide patients around the world the same state-of-the-art in care, members of The Galactosemia Network (GalNet) developed an evidence-based and internationally applicable guideline for the diagnosis, treatment, and follow-up of CG. The guideline was developed using the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) system. A systematic review of the literature was performed, after key questions were formulated during an initial GalNet meeting. The first author and one of the working group experts conducted data-extraction. All experts were involved in data-extraction. Quality of the body of evidence was evaluated and recommendations were formulated. Whenever possible recommendations were evidence-based, if not they were based on expert opinion. Consensus was reached by multiple conference calls, consensus rounds via e-mail and a final consensus meeting. Recommendations addressing diagnosis, dietary treatment, biochemical monitoring, and follow-up of clinical complications were formulated. For all recommendations but one, full consensus was reached. A 93 % consensus was reached on the recommendation addressing age at start of bone density screening. During the development of this guideline, gaps of knowledge were identified in most fields of interest, foremost in the fields of treatment and follow-up.Electronic supplementary materialThe online version of this article (doi:10.1007/s10545-016-9990-5) contains supplementary material, which is available to authorized users.

Rigor of non‐dairy galactose restriction in early childhood, measured by retrospective survey, does not associate with severity of five long‐term outcomes quantified in 231 children and adults with classic galactosemia

“…Berry, 2014; Welling et al, 2017). Once solid foods are introduced, however, some children continue on a diet that rigorously excludes not only milk and all high galactose dairy products but also legumes, many fruits and vegetables, and other foods believed to contain concerning amounts of galactose.…”

Класична Галактоземія: Особливості Діагностики Та Лікування

“…Вроджена недо-статність одного з трьох ферментів [1]: галактозо-1-фосфатуридинтрансферази (ГАЛТ; GALT), галактокінази (ГАЛК; GALK) і уридиндифосфат-галактозо-4-епімерази (ГАЛЕ; GALE) призводить до накопичення галактозо-1-фосфату, галактози і галактитолу в еритроцитах, клітинах печінки та ін-ших тканинах, що впливає на осмотичні процеси, спричиняє виникнення набряків, тяжкого уражен-ня печінки, нервової системи, катаракти, сепсису [3]. Сучасна класифікація галактоземій побудована за етіологічним принципом [4] (табл.…”

“…Детекція мажорних мутацій Q188R і K285N [20] в гені GALT здійснена за допомогою алельспеци-фічної полімеразної ланцюгової реакції на термо-циклері SimpliAmp (AB, США) з використанням праймерів [3] та комерційних наборів GenPak PCR Core (Neogen, Україна). Візуалізацію та реєстра-цію результатів здійснено за допомогою капіляр-ного електрофорезу MultiNA (Shimadzu Biotech, Японія).…”

Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG)

“…1,21,22 It is unclear whether this condition is clinically benign or may require lactose restriction, 1,21,22 however, the latest clinical guidelines for the management of patients with galactosemia do not recommend treatment for patients with DG variant galactosemia. 23 …”

“…Early studies demonstrated that, although both urinary galactitol and Gal-1-P are greatly increased in patients with classic galactosemia, urinary galactitol may be a better marker of dietary compliance; 20,48,49,52 however, the clinical utility of galactitol for managing patients with classic galactosemia is still considered limited. 23 …”