A patient with classical galactosemia is graduated with a university degree

Iakovou, Konstantinos; Kalogerakou, Maria; Schulpis, Kleopatra H.

doi:10.1515/jpem-2018-0294

Cited by 5 publications

(5 citation statements)

References 6 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Finally, eleven studies were retained (see Fig. 1), including two case-control studies [19, 20], five cross-sectional studies [15, 21–24], one case-series [25] and three case reports [26–28]. Several studies investigating the cognitive development of patients with CG were excluded, since they only used developmental scales and/or intelligence tests which are not informative about the level of functioning in a specific cognitive domain.…”

Section: Resultsmentioning

confidence: 99%

“…The genetic mutation was known of 71 patients, of which 48 were homozygous for the Q188R-variant might be related to a more severe outcome [1]. Due to the inclusion of four studies that did not perform or report the results of genetic analysis [21–23, 26], the presence of patients carrying the S135 L-variant remained unknown. Two studies reported the presence of movement disorders, in which tremor and ataxia were the most common symptoms [15, 23].…”

Section: Resultsmentioning

confidence: 99%

“…According to the JBI- and the SIGN checklists, only one study was found to be of high quality [19]. Three studies were of low quality, with a high risk of bias [20, 26, 28]. All other studies were found to be of moderate quality.…”

Section: Resultsmentioning

confidence: 99%

“…Finally, there was a large variability between studies in utilized neuropsychological tests. Based on neuropsychological handbooks [8, 16], four studies used tests of moderate psychometric quality and/or with older normative data [15, 21, 23, 26]. One study used a test of unclear psychometric quality [22].…”

Section: Resultsmentioning

confidence: 99%

“…A case-series found receptive vocabulary impairment in three children and no impairment in one child [25]. Three case reports, of which one was controlled, found no impairment [20, 26, 28]. A group study reported no impairments in phonological awareness, another basic aspect of receptive language [23].…”

Section: Resultsmentioning

confidence: 99%

See 4 more Smart Citations

Cognitive functioning in patients with classical galactosemia: a systematic review

Hermans

Welsink‐Karssies

Bosch

et al. 2019

Orphanet J Rare Dis

View full text Add to dashboard Cite

Background Patients with the metabolic disorder classical galactosemia suffer from long-term complications despite a galactose-restricted diet, including a below average intelligence level. The aim of the current review was to investigate the incidence and profile of cognitive impairments in patients with classical galactosemia. Method MEDLINE, EMBASE and PsychINFO were searched up to 23 October 2018 for studies examining information processing speed, attention, memory, language, visuospatial functioning, executive functioning and social cognition in patients with confirmed classical galactosemia utilizing standardized neuropsychological tests. Data synthesis followed a narrative approach, since the planned meta-analysis was not possible due to large variability between the neuropsychological assessments. Results Eleven studies were included, including case-studies. The quality of most studies was moderate to low. As a group, patients with classical galactosemia exhibit below average to low scores on all cognitive domains. A large proportion of the patients perform on an impaired level on attention, memory and vocabulary. Evidence for impairments in information processing speed, language, visuospatial functioning and aspects of executive functioning was limited due to the small number of studies investigating these cognitive functions. Social cognition was not examined at all. Conclusions Given the moderate to low quality of the included studies and the limited evidence in many cognitive domains, the incidence of cognitive impairment in patients with classical galactosemia is not yet clear. Both clinicians and researchers encountering patients with classical galactosemia need to be aware of possible cognitive impairments. Future well-designed studies are needed to determine the cognitive profile of classical galactosemia. This can be the basis for the development of intervention strategies.

show abstract

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

See 3 more Smart Citations

Cognitive functioning in patients with classical galactosemia: a systematic review

Hermans

Welsink‐Karssies

Bosch

et al. 2019

Orphanet J Rare Dis

View full text Add to dashboard Cite

show abstract

Galactosemia: opportunities for novel therapies

McCorvie

Timson

2020

Protein Homeostasis Diseases

View full text Add to dashboard Cite

Repurposing drugs for the treatment of galactosemia

Timson

2019

Expert Opinion on Orphan Drugs

View full text Add to dashboard Cite

Introduction: Galactosemia describes four diseases resulting from mutations in genes which code for enzymes involved in the metabolism of galactose and its derivatives. It has a wide range of symptoms ranging from the relatively mild (early onset cataracts) to severe damage to the liver, brain and ovaries which results in significant physical and cognitive disability. The only treatment is the removal or reduction of galactose in the diet. This treatment is unsatisfactory, particularly in the most severe forms of the disease. Considerable research efforts are being made to develop specific therapies for galactosemia. These include gene therapies, pharmacological chaperones, drugs to block the production of potentially toxic metabolites and enzyme replacement therapy. However, these are unlikely to be translated into the clinic for at least a decade.Areas covered: This review considers existing drugs, nutrients and treatments which could be relatively rapidly repurposed for the treatment of galactosemia. If successful, these would enable an improvement in the prognosis for galactosemia patients. Expert opinion: Dietary antioxidants which are already widely used and generally considered safe (e.g. resveratrol, purple sweet potato colour) should be tested for their efficacy in galactosemia.Pharmaceutical antioxidants (e.g. idebenone) should also be considered. Phosphate supplementation, along with careful monitoring of phosphate levels in the patient's diet should also be considered. Efforts to develop specific therapies for galactosemia should continue.

show abstract

A patient with classical galactosemia is graduated with a university degree

Cited by 5 publications

References 6 publications

Cognitive functioning in patients with classical galactosemia: a systematic review

Cognitive functioning in patients with classical galactosemia: a systematic review

Galactosemia: opportunities for novel therapies

Repurposing drugs for the treatment of galactosemia

Contact Info

Product

Resources

About