Abstract
BackgroundPatients 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.MethodMEDLINE, 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.ResultsEleven 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.ConclusionsGiven 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.
Highlights
Classical galactosemia (CG; OMIM: 230400) is a rare autosomal recessive metabolic disorder with an incidence between 1:16.000 and 1:60.000 in Europe and the USA [1]
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
Summary
Classical galactosemia (CG; OMIM: 230400) is a rare autosomal recessive metabolic disorder with an incidence between 1:16.000 and 1:60.000 in Europe and the USA [1]. The disorder is caused by a deficiency of galactose-1phosphate uridylyltransferase (GALT, EC 2.7.7.12). Due to this deficiency, newborns develop a life-threatening illness after the ingestion of breast milk or formula. A low IQ can be caused by a global impairment in the general mental abilities, but it can be the result of a specific impairment in one or multiple cognitive domains lowering scores of some or several subtests and the IQ [8]. 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
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