Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia

Mirjam Korner,Matthias Gautschi,Sonja Kälin,Niklaus Fankhauser,Jean-Marc Nuoffer,Antoinette Zweifel-Zehnder

doi:10.1186/s13023-019-0999-3

Abstract

BackgroundClassical galactosemia (CG) is due to a severe deficiency of the galactose-1-phosphate uridyl-transferase (GALT), the main enzyme of galactose metabolism. Even early introduction of galactose-restricted diet fails to prevent long-term complications, including cognitive impairment, neurological and psychiatric problems, osteoporosis, premature ovarian failure and infertility. Detailed neuropsychological phenotyping is needed in order to better understand the relevant neurodevelopmental deficiencies and to develop effective treatment strategies.AimTo define specifically and significantly impaired neuropsychological traits in adult CG patients of the Swiss cohort.MethodsProspective cohort study. 22 CG patients, with confirmed genotype and low GALT activity, and 15 controls completed a computer-based neuropsychological test battery (CANTAB). Additionally, broad IQ evaluation was made for the CG patients.ResultsIn most outcome measures of the CANTAB tasks, CG patients performed significantly worse than controls. The deficits in CG patients were most prominent in tasks that involve rapid visual information processing and facial emotion recognition.ConclusionCG patients have specific cognitive problems such as impaired visual information processing and facial emotion recognition. The deficits in facial emotion recognition have not been described before and could help explain difficulties in social interactions often experienced by patients with CG.

Highlights

Classical galactosemia (CG) is due to a severe deficiency of the galactose-1-phosphate uridyl-transferase (GALT), the main enzyme of galactose metabolism
In most outcome measures of the Cambridge Neuropsychological Test Automated Battery (CANTAB) tasks, CG patients performed significantly worse than controls
The deficits in CG patients were most prominent in tasks that involve rapid visual information processing and facial emotion recognition

Summary

Introduction

Classical galactosemia (CG) is due to a severe deficiency of the galactose-1-phosphate uridyl-transferase (GALT), the main enzyme of galactose metabolism. Even early introduction of galactose-restricted diet fails to prevent long-term complications, including cognitive impairment, neurological and psychiatric problems, osteoporosis, premature ovarian failure and infertility. Classical galactosemia (CG; OMIM #230400) is a rare disorder affecting the galactose metabolism. It is autosomal-recessively inherited and caused by a profound deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT; EC 2.7.7.12) [1]. Newborns with CG develop a life-threatening intoxication syndrome with acute liver failure, renal tubular. In order to ensure rapid diagnosis and adequate management, newborns are screened for galactosemia in many countries. Newborn screening can decrease the morbidity and mortality caused by the acute complications of galactosemia in the neonatal period

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